Affinage

MCPH1

Microcephalin · UniProt Q8NEM0

Length
835 aa
Mass
92.8 kDa
Annotated
2026-06-10
98 papers in source corpus 39 papers cited in narrative 37 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MCPH1 (BRIT1) is a multidomain BRCT protein that integrates the DNA damage response with chromosome condensation control and cell-cycle timing, and whose loss causes primary microcephaly [PMID:16217032, PMID:bio_10.1101_2025.06.19.660578, PMID:21947081]. As a proximal DNA damage sensor, MCPH1 forms ionizing-radiation-induced nuclear foci within minutes and is required for activation of intra-S and G2/M checkpoints upstream of BRCA1 and Chk1 [PMID:16217032, PMID:bio_10.1101_2025.06.19.660578, PMID:16872911]; its C-terminal tandem BRCT domains dock directly onto phospho-H2AX, reading both the pSer139 and pSer139/pTyr142 marks through a distinctive phosphopeptide pocket (PMID:17925396, PMID:22154951, PMID:22908299), while its N-terminal BRCT domain directs centrosomal localization (PMID:17599047). Recruitment to breaks is gated by a USP8-catalyzed, BRUCE-scaffolded deubiquitination of K63-linked chains on MCPH1 (PMID:25733871), after which MCPH1 engages the SWI-SNF complex via BAF170 in an ATM/ATR-dependent manner to relax chromatin and license repair-factor access (PMID:19525936). In homologous recombination, MCPH1 binds RAD51/BRCA2 and single-stranded DNA, stabilizing RAD51-ssDNA filaments and promoting RAD51/BRCA2 loading at damage sites (PMID:20107607, PMID:32735676). Independently of damage signaling, MCPH1 is a negative regulator of Condensin II during interphase, binding the NCAPG2/CAPG2 subunit through a short linear motif and using its N-terminal BRCT domain to compete for Condensin II chromosomal binding sites, thereby preventing premature chromosome condensation (PMID:18718915, PMID:21911480, PMID:34850681); the N-terminal BRCT and central (exon 8) domains are each individually essential for brain size, gonad development, and PCC suppression in vivo (PMID:33542216, PMID:36078123). MCPH1 also controls mitotic timing: it abrogates premature Cdk1 activation by maintaining Chk1 at centrosomes and by promoting βTrCP2-dependent Cdc25A degradation, and its loss switches neuroprogenitor divisions from symmetric to asymmetric to cause microcephaly (PMID:21947081, PMID:29150431). As a transcriptional co-regulator, MCPH1 cooperates with E2F1 to drive CHK1, BRCA1, RAD51, and p73 expression (PMID:18660752). A distinct cytoplasmic function maintains hematopoietic stem cells by binding phospho-RIPK3 to suppress necroptosis, an activity lost when aging-associated KAT7-mediated acetylation of the MCPH1 NLS drives nuclear translocation (PMID:38632351).

Mechanistic history

Synthesis pass · year-by-year structured walk · 19 steps
  1. 2005 High

    Established MCPH1/BRIT1 as a required upstream component of the DNA damage checkpoint, answering whether it has a functional role in the DDR rather than being a passive marker.

    Evidence siRNA depletion with checkpoint flow cytometry, Western blot, and γH2AX foci co-localization in human cells

    PMID:16217032 PMID:bio_10.1101_2025.06.19.660578

    Open questions at the time
    • Did not define the molecular mechanism of recruitment to damage sites
    • Direct vs. transcriptional contribution to BRCA1/Chk1 reduction unresolved
  2. 2006 High

    Positioned BRIT1 as a proximal factor in the ATM/ATR pathway by showing rapid focus formation and co-localization with core DDR mediators, and that its loss increases genomic instability.

    Evidence Immunofluorescence foci analysis, co-localization with 53BP1/MDC1/NBS1/ATM/RPA/ATR, and chromosomal aberration assays after siRNA knockdown

    PMID:16872911

    Open questions at the time
    • Did not identify the molecular determinant of focus targeting
    • Order of recruitment relative to MDC1 not yet resolved
  3. 2007 High

    Mapped the recruitment mechanism to defined domains, showing the C-terminal tandem BRCT domains bind γH2AX for IRIF formation while the N-terminal BRCT drives centrosomal targeting.

    Evidence BRCT domain deletion/mutation constructs, in vitro peptide binding, and immunofluorescence in H2AX-deficient, MDC1-depleted, ATM/Brca1-deficient cells (including DT40)

    PMID:17599047 PMID:17925396

    Open questions at the time
    • Structural basis of the BRCT-phosphopeptide interaction not yet resolved
    • Centrosomal binding partner unknown
  4. 2008 High

    Defined how MCPH1 acts after recruitment, linking it to chromatin remodeling, HR repair via Condensin II, and E2F1-dependent transcription of DDR genes.

    Evidence Co-IP, chromatin fractionation/accessibility assays, domain mapping, DR-GFP HR reporter in null MEFs, and ChIP/reporter assays for E2F1 targets

    PMID:18660752 PMID:18718915 PMID:19525936

    Open questions at the time
    • How SWI-SNF recruitment, HR, and transcription are temporally coordinated unclear
    • Whether Condensin II binding and HR are mechanistically separable not addressed
  5. 2010 High

    Distinguished MCPH1's anti-condensation activity from its HR role and validated HR function in vivo, establishing Condensin II as the effector of the PCC phenotype.

    Evidence Selective Condensin I/II subunit depletion in patient cells; BRIT1 knockout mice with γ-irradiation sensitivity, RAD51 foci, meiotic spreads, and RAD51/BRCA2 Co-IP/chromatin fractionation

    PMID:16434882 PMID:20107607

    Open questions at the time
    • Biochemical mechanism of RAD51 promotion not yet defined
    • How MCPH1 distinguishes interphase Condensin II inhibition from repair functions unclear
  6. 2011 High

    Resolved the structural and mechanistic basis for Condensin II inhibition and microcephaly, showing N-terminal competition for Condensin II, a SET partner, and a centrosomal Chk1-Cdk1-Cdc25b axis controlling neuroprogenitor division mode.

    Evidence Xenopus egg extract reconstitution, crystal structure of N-BRCT with rescue mutagenesis, SET Co-IP/epistasis, and Mcph1-knockout mouse with in vivo Cdc25b rescue

    PMID:19925808 PMID:21515671 PMID:21911480 PMID:21947081

    Open questions at the time
    • How N-BRCT pocket binding to SET relates to Condensin II competition mechanistically unresolved
    • Direct connection between centrosomal Chk1 loss and division-mode switch incompletely defined
  7. 2011 High

    Extended BRCT-phosphopeptide reading beyond γH2AX, showing the C-BRCTs bind phospho-Cdc27 of the APC/C, broadening MCPH1's mitotic interaction repertoire.

    Evidence Crystal structure of C-BRCT-pCdc27 peptide complex with in vitro binding and structure-guided mutagenesis

    PMID:22139841

    Open questions at the time
    • Functional consequence of MCPH1-pCdc27 binding for APC/C activity not established
  8. 2012 High

    Provided structural definition of the C-BRCT phosphopeptide pocket and showed it is distinct from canonical BRCT domains with selectivity for pSer+3 and a free C-terminus.

    Evidence X-ray crystallography of C-BRCTs alone and with γH2AX tail, plus fluorescence polarization binding assays

    PMID:22154951

    Open questions at the time
    • In vivo significance of the C-terminal selectivity not directly tested
  9. 2012 Medium

    Demonstrated MCPH1 acts directly on the hTERT promoter to repress telomerase, indicating a sequence-specific transcriptional repressor activity.

    Evidence Luciferase reporter, EMSA, siRNA knockdown, and TRAP telomerase activity assay

    PMID:22240313

    Open questions at the time
    • Single lab; direct DNA-binding mode not structurally defined
    • Cofactors required for repression unidentified
  10. 2013 High

    Connected MCPH1 loss to a specific neurodevelopmental defect, showing premature neurogenesis skews cortical layer composition without affecting migration.

    Evidence Mcph1 knockout mouse with BrdU/EdU cortical layer birth-dating, HR assays, and TUNEL after irradiation

    PMID:23683352

    Open questions at the time
    • Relative contribution of HR defects vs. mitotic timing to the layering phenotype unresolved
  11. 2014 Medium

    Identified additional regulatory roles in p53 stabilization and ATR signaling amplification, linking MCPH1 to tumor suppression and replication-stress responses.

    Evidence Co-IP (MDM2/p53; TopBP1), ubiquitination assays, pSer-322 phospho-antibody, transformation and xenograft assays

    PMID:23729656 PMID:25301947

    Open questions at the time
    • TopBP1 recruitment role not independently replicated
    • Mechanism by which MCPH1 blocks MDM2-mediated p53 ubiquitination not structurally defined
  12. 2015 High

    Defined the upstream gate for MCPH1 recruitment and additional roles in centrosome and gene-silencing control, showing K63-deubiquitination via BRUCE/USP8 is a prerequisite for γH2AX binding.

    Evidence K63-ubiquitination assays, trimeric BRUCE-USP8-BRIT1 Co-IP, UBC domain mutants, BRUCE mutant mice, plus centrosome STIL/CDK2 and ANGPT2 promoter methylation studies

    PMID:25703238 PMID:25733871 PMID:26683461 PMID:32681070

    Open questions at the time
    • STIL/CDK2 and ANGPT2 mechanisms from single labs
    • How deubiquitination is timed relative to break formation unclear
  13. 2017 High

    Established MCPH1 as both a regulator and substrate of cell-cycle proteolysis, promoting βTrCP2-dependent Cdc25A degradation while itself being degraded by APC/C-Cdh1, and validated a role in immunoglobulin class switch recombination.

    Evidence Co-IP, degradation assays, in utero electroporation rescue (βTrCP2/Cdc25A), conditional B-cell knockout with Igh ChIP and CSR assays

    PMID:28724724 PMID:29150431

    Open questions at the time
    • How the Cdc25A and centrosomal Chk1 axes integrate not fully resolved
    • CSR role mechanism relative to MDC1 redundancy incompletely mapped
  14. 2018 Medium

    Refined the proteolytic control of MCPH1 by showing isoform-specific APC/C-Cdh1 degradation via distinct D-box and KEN-box degrons after mitotic exit.

    Evidence Cell-cycle synchronization, phospho-site identification, APC/C Co-IP, and degron mutagenesis

    PMID:30303738

    Open questions at the time
    • Single lab; functional consequence of isoform-specific turnover not established
  15. 2019 Medium

    Identified a selective role in decatenation checkpoint adaptation, distinct from ATM/ATR DNA-damage checkpoint control.

    Evidence MCPH1-depleted HeLa cells with ICRF-193 G2 arrest and live-imaging adaptation assays versus ATM/ATR inhibitors

    PMID:30964711

    Open questions at the time
    • Single lab; molecular mechanism of adaptation not defined
  16. 2020 High

    Provided direct biochemical and structural mechanisms for HR and telomere functions, showing MCPH1 stabilizes RAD51-ssDNA filaments and is recruited to telomeres via TRF2 to promote fork progression.

    Evidence Purified-protein reconstitution with single-molecule TPM, RAD51 interaction mapping, crystal structure of MCPH1-TRF2, and telomere TIF/DNA fiber assays

    PMID:32735676 PMID:33203878

    Open questions at the time
    • Whether filament stabilization fully accounts for in vivo HR phenotypes not established
    • Mitochondrial localization role (idx 27) remains correlative
  17. 2021 High

    Established MCPH1 as a constitutive interphase brake on Condensin II analogous to WAPL on cohesin, binding NCAPG2 and preventing CDK1-independent chromosome compaction, and assigned domain-specific essentiality in vivo.

    Evidence Mcph1 knockout ESC Hi-C, CDK1 inhibition, SMC2-NCAPH2 fusion epistasis, Co-IP, and Mcph1-ΔBR1 mouse phenotyping

    PMID:33542216 PMID:34850681

    Open questions at the time
    • Structural basis of the NCAPG2 short-linear-motif interaction not resolved
    • How interphase Condensin II inhibition is relieved at mitotic onset unclear
  18. 2024 High

    Revealed a non-nuclear function in hematopoietic stem cells, where cytoplasmic MCPH1 suppresses necroptosis and aging-driven KAT7 acetylation of its NLS redistributes it to the nucleus.

    Evidence Subcellular fractionation, MCPH1-p-RIPK3 Co-IP, acetylation mapping, KAT7 inhibition, NLS mutagenesis, and HSC transplantation assays

    PMID:38632351

    Open questions at the time
    • Whether cytoplasmic anti-necroptotic function operates in other cell types unknown
    • Structural basis of MCPH1-RIPK3 binding undefined
  19. 2024 Medium

    Clarified that p53/p19ARF activation in Mcph1-deficient cells is a consequence rather than a cause of the proliferation defect, refining the senescence and anemia phenotype interpretation.

    Evidence Mcph1 knockout mouse/MEF RNA-seq, p19Arf siRNA rescue, and Mcph1/p53 double-knockout epistasis

    PMID:38605277 PMID:38731817

    Open questions at the time
    • Primary lesion upstream of p19ARF activation not pinpointed
    • Single-lab characterization

Open questions

Synthesis pass · forward-looking unresolved questions
  • How MCPH1's distinct activities — γH2AX-dependent DDR recruitment, RAD51 filament stabilization, interphase Condensin II inhibition, centrosomal Chk1/Cdc25A timing, and cytoplasmic necroptosis suppression — are coordinated within a single cell and which is rate-limiting for microcephaly remains unresolved.
  • No unified model integrating nuclear DDR/condensation and cytoplasmic functions
  • Domain-level determinants of partner selection among γH2AX, NCAPG2, RAD51, and RIPK3 not jointly mapped

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 5 GO:0003677 DNA binding 3 GO:0042393 histone binding 3 GO:0140110 transcription regulator activity 3 GO:0060090 molecular adaptor activity 2
Localization
GO:0000228 nuclear chromosome 3 GO:0005634 nucleus 3 GO:0005815 microtubule organizing center 3 GO:0005829 cytosol 1
Pathway
R-HSA-73894 DNA Repair 5 R-HSA-1640170 Cell Cycle 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-1266738 Developmental Biology 2 R-HSA-4839726 Chromatin organization 2 R-HSA-5357801 Programmed Cell Death 1
Partners
BRCA2E2F1H2AXNCAPG2/CAPG2RAD51RIPK3TRF2USP8
Complex memberships
BRUCE-USP8-BRIT1 deubiquitination complexSWI-SNF (via BAF170)

Evidence

Reading pass · 37 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2005 BRIT1/MCPH1 is required for activation of both intra-S and G2/M checkpoints in response to ionizing radiation; depletion of BRIT1 abolishes IR-induced cell cycle arrest and reduces expression of BRCA1 and Chk1, and phosphorylation of Nbs1, placing BRIT1 upstream of BRCA1-Chk1 in the DNA damage response pathway. siRNA depletion in human cells, cell cycle checkpoint assays (flow cytometry), Western blot, immunofluorescence co-localization with γ-H2AX foci Proceedings of the National Academy of Sciences of the United States of America High 16217032 bio_10.1101_2025.06.19.660578
2006 BRIT1 forms IR-induced nuclear foci within minutes of irradiation and co-localizes with 53BP1, MDC1, NBS1, ATM, RPA, and ATR; BRIT1 depletion impairs activation of these DDR elements, identifying BRIT1 as a proximal factor in ATM/ATR pathways and its loss increases chromosomal aberrations. Immunofluorescence foci analysis, co-localization studies, siRNA knockdown, chromosomal aberration assays Cancer cell High 16872911
2007 MCPH1 localizes to sites of DNA double-strand breaks via its C-terminal tandem BRCT domains, which bind phospho-H2AX (γH2AX) in vitro; this localization depends on H2AX phosphorylation but is independent of MDC1. Overexpression of wild-type but not C-BRCT mutant MCPH1 interferes with MDC1 and 53BP1 foci formation. BRCT domain deletion/mutation constructs, co-immunoprecipitation, in vitro peptide binding assay, immunofluorescence in H2AX-deficient and MDC1-depleted cells The Journal of biological chemistry High 17925396
2007 MCPH1's C-terminal tandem BRCT domains (BRCT2+BRCT3) are required for ionizing radiation-induced nuclear focus (IRIF) formation, while the N-terminal BRCT1 domain is required for centrosomal localization in irradiated cells. Centrosomal targeting is independent of ATM, Brca1, and Chk1 but IRIF formation requires H2AX. Domain deletion constructs, immunofluorescence in ATM-deficient, Brca1-deficient, and H2AX-deficient cell lines (chicken DT40 system) Oncogene High 17599047
2008 BRIT1/MCPH1 increases its interaction with the SWI-SNF chromatin remodeling complex (via the BAF170 subunit) after DNA damage in an ATM/ATR-dependent phosphorylation-dependent manner, recruiting SWI-SNF to DNA lesions to promote chromatin relaxation and facilitate repair factor recruitment. Co-immunoprecipitation, chromatin fractionation, siRNA knockdown, chromatin accessibility assay (micrococcal nuclease sensitivity), ATM/ATR inhibition Nature cell biology High 19525936
2008 MCPH1 physically interacts with Condensin II via its CAPG2 subunit, through MCPH1's middle domain (residues 376–485). Condensin II depletion causes defects in homologous recombination (HR) repair similar to those in MCPH1-null MEFs, and the Condensin II-binding region of MCPH1 is required for HR function. Co-immunoprecipitation, domain mapping, siRNA knockdown, HR repair assay (DR-GFP reporter), MCPH1-null MEFs The Journal of biological chemistry High 18718915
2008 MCPH1 cooperates with E2F1 to regulate transcription of CHK1, BRCA1, RAD51, DDB2, TOPBP1, p73, and caspases by physically interacting with E2F1 on their promoters. MCPH1 forms oligomers via its second and third BRCT domains; a dominant-negative oligomerization domain mutant blocks MCPH1-E2F1 interaction and inhibits p73 induction and E2F1-dependent apoptosis. Co-immunoprecipitation, chromatin immunoprecipitation (ChIP), reporter gene assays, siRNA knockdown, dominant-negative mutant overexpression, apoptosis assays EMBO reports High 18660752
2009 The X-ray crystal structure of the human MCPH1 N-terminal BRCT domain (Mcph1N) at 1.6 Å resolution reveals an elongated β1-α1 loop and a hydrophobic pocket in the equivalent position of phosphate-binding sites. Mutations in this pocket abrogate MCPH1's ability to rescue the premature chromosome condensation (PCC) phenotype in Mcph1−/− MEFs, indicating this pocket forms a protein-protein interaction site required to prevent PCC. X-ray crystallography, site-directed mutagenesis, complementation assay in Mcph1−/− MEFs (PCC phenotype rescue) Journal of molecular biology High 19925808
2010 In MCPH1-deficient patient cells, siRNA-mediated depletion of Condensin II subunits (but not Condensin I) reverses premature chromosome condensation in G1 and G2, demonstrating that Condensin II activity is required for the PCC phenotype caused by MCPH1 deficiency. Condensin I remains cytoplasmic in prophase-like MCPH1-deficient cells. siRNA knockdown of Condensin I/II subunits in MCPH1 patient cells, cell cycle staging by FACS and microscopy, subcellular fractionation Cell cycle (Georgetown, Tex.) High 16434882
2010 BRIT1/MCPH1 knockout mice are hypersensitive to γ-irradiation, exhibit severe chromatid breaks, reduced RAD51 foci formation after IR, and infertility due to impaired meiotic homologous recombination. BRIT1 binds RAD51/BRCA2 complexes and its absence reduces recruitment of RAD51 and BRCA2 to chromatin at damage sites without altering their protein levels. BRIT1 knockout mouse model, γ-irradiation sensitivity assays, immunofluorescence for RAD51 foci, meiotic chromosome spread analysis, co-immunoprecipitation (BRIT1-RAD51/BRCA2 interaction), chromatin fractionation PLoS genetics High 20107607
2011 MCPH1 disruption in mice causes primary microcephaly through premature switching of neuroprogenitors from symmetric to asymmetric division. Mechanistically, MCPH1 deficiency abrogates Chk1 localization to centrosomes, causing premature Cdk1 activation and early mitotic entry, uncoupling the centrosome cycle from mitosis. Silencing of Cdc25b (a centrosomal Chk1 substrate) rescues spindle misalignment and premature neurogenesis in Mcph1-knockout neocortex. Mcph1 knockout mouse model, immunofluorescence for Chk1 at centrosomes, Cdk1 activity assay, spindle orientation analysis, Cdc25b siRNA in vivo rescue, clonal analysis of neuroprogenitor division mode Nature cell biology High 21947081
2011 hMCPH1's N-terminal domain specifically inhibits Condensin II by competing for its chromosomal binding sites in a Xenopus egg extract cell-free assay. The N-terminal domain alone is sufficient to rescue the PCC phenotype in patient cells; the central domain plays an auxiliary role in chromosome shaping by physically interacting with Condensin II. Xenopus egg extract cell-free chromosome condensation assay, domain deletion constructs, complementation assay in MCPH1 patient cells, co-immunoprecipitation The Journal of cell biology High 21911480
2011 SET nuclear oncogene is a direct binding partner of the MCPH1 N-terminal BRCT domain. SET knockdown causes abnormal chromosome condensation that is rescued by Condensin II knockdown. MCPH1 missense mutations (V50G/I51V) that impair SET binding fail to fully rescue chromosome condensation in Mcph1−/− MEFs. Co-immunoprecipitation, siRNA knockdown, complementation assay in Mcph1−/− MEFs, missense mutagenesis The Journal of biological chemistry High 21515671
2011 MCPH1 C-terminal tandem BRCT domains bind phospho-Cdc27 (a component of APC/C) in a phosphorylation-dependent manner. The crystal structure of MCPH1 C-BRCTs in complex with a phosphorylated Cdc27 peptide was determined, and structure-guided mutations disrupted the interaction in vitro and in cells. X-ray crystallography of C-BRCT–pCdc27 peptide complex, in vitro binding assays, co-immunoprecipitation, structure-guided mutagenesis The Journal of biological chemistry High 22139841
2011 Crystal structures of MCPH1 C-terminal tandem BRCT domains (alone and in complex with γH2AX tail) reveal a phosphopeptide binding pocket distinct from other BRCT domains; fluorescence polarization assays show selectivity for pSer+3 and preference for phosphopeptide with free COOH-terminus. X-ray crystallography, fluorescence polarization binding assay Journal of structural biology High 22154951
2012 MCPH1 tandem BRCT domains can read both pSer139 (monophosphorylated) and the diphosphorylated (pSer139/pTyr142) states of H2A.X. Structural, biochemical, and cellular evidence show that MCPH1 recruitment to DNA damage sites is linked to both H2A.X phosphorylation states, making MCPH1 a dual sensor of H2A.X marks. X-ray crystallography (structural analysis), biochemical binding assays, cellular recruitment assays (immunofluorescence), mutagenesis Proceedings of the National Academy of Sciences of the United States of America High 22908299
2015 BRIT1/MCPH1 is K63-ubiquitinated in unstimulated cells, and deubiquitination by USP8 is a prerequisite for BRIT1 recruitment to DSB sites via γH2AX. BRUCE acts as a scaffold bridging USP8 and BRIT1 to coordinate USP8-catalyzed deubiquitination. Loss of BRUCE or USP8 impairs BRIT1 deubiquitination, its binding to γH2AX, and chromatin relaxation. Ubiquitination assays (K63 linkage), co-immunoprecipitation (BRUCE-USP8-BRIT1 complex), siRNA knockdown, immunofluorescence foci assay, HR repair assay, BRUCE mutant mice Proceedings of the National Academy of Sciences of the United States of America High 25733871
2017 MCPH1 interacts with βTrCP2 E3 ligase and promotes degradation of Cdc25A independent of DNA damage, thereby regulating G2/M mitotic entry. MCPH1 itself is degraded by APC/C-Cdh1 (not APC/C-Cdc20) in late mitosis/G1. Overexpression of βTrCP2 or knockdown of Cdc25A rescues premature differentiation of Mcph1-deficient neuroprogenitors in vivo. Co-immunoprecipitation (MCPH1-βTrCP2), protein degradation assays, in utero electroporation (siRNA/overexpression), immunofluorescence, APC/C substrate assays The EMBO journal High 29150431
2017 BRIT1/MCPH1 is recruited to the Ig heavy chain (Igh) locus in an activation-induced cytidine deaminase (AID)- and H2AX-dependent manner. Conditional deletion of BRIT1 in B cells leads to increased unrepaired Igh breaks and reduced class switch recombination (CSR). The C-terminal BRCT domains facilitate interaction with phospho-H2AX, and BRIT1 depletion worsens CSR defects when combined with MDC1 depletion. Conditional knockout mouse model, ChIP at Igh locus, CSR assays (FACS for IgG subclasses), co-immunoprecipitation, shRNA screen, double knockdown Proceedings of the National Academy of Sciences of the United States of America High 28724724
2020 MCPH1 directly binds to single-stranded DNA and directly interacts with RAD51 at multiple contact points. MCPH1 enhances stability of RAD51-ssDNA filaments approximately 2-fold (single-molecule tethered particle motion), providing a biochemical mechanism for MCPH1's role in HR repair. Purified recombinant MCPH1 protein from mammalian expression system, DNA binding assays, co-immunoprecipitation with RAD51, single-molecule tethered particle motion analysis of RAD51-ssDNA filament lifetime Nucleic acids research High 32735676
2020 MCPH1 specifically interacts with the TRFH domain of TRF2 via its 330YRLSP334 motif, as revealed by crystal structure. TRF2-dependent recruitment of MCPH1 promotes localization of DNA damage factors and homology-directed repair at dysfunctional telomeres lacking POT1-TPP1, and MCPH1 promotes telomere replication fork progression and restart of stalled forks. Crystal structure of MCPH1-TRF2 complex, co-immunoprecipitation, immunofluorescence at telomeres (TIF assay), replication fork assay (DNA fiber), telomere replication stress assays Nature communications High 33203878
2021 MCPH1 inhibits Condensin II during interphase by binding to the NCAPG2 subunit of Condensin II via a short linear motif. Deletion of Mcph1 in mouse ESCs unleashes Condensin II to form compact chromosomes in G1 and G2 phases even without CDK1 activity, with enhanced A/B compartment mixing. MCPH1's ability to block Condensin II chromatin association is abrogated by fusion of SMC2 with NCAPH2, analogous to cohesin regulation by WAPL. Mcph1 knockout mouse ESCs, Hi-C chromatin architecture analysis, CDK1 inhibition experiments, SMC2-NCAPH2 fusion construct, co-immunoprecipitation, fluorescence microscopy eLife High 34850681
2021 The N-terminal BRCT domain of MCPH1 is essential for brain size determination, gonad development, DNA damage response, and prevention of premature chromosome condensation (PCC) in vivo. Mouse model lacking only the N-BRCT domain (Mcph1-ΔBR1) recapitulates all phenotypes of complete Mcph1 knockout, including microcephaly, infertility, and PCC. Mouse model (Mcph1-ΔBR1 deletion), brain size measurement, fertility assays, MEF DNA damage response assays, chromosome condensation analysis (PCC phenotype) Cell death & disease High 33542216
2013 Deletion of Mcph1 results in a specific reduction of cerebral cortex at birth with premature neurogenic production causing excess early-born deep-layer neurons (IV-VI) and fewer late-born upper-layer neurons (II-III), without affecting neuronal migration. Mcph1 deletion also compromises homologous recombination repair and increases genomic instability. IR causes massive apoptosis in Mcph1-null neocortex. Mcph1 knockout mouse model, BrdU/EdU birth-dating of cortical layers, HR repair assay (RAD51 foci, comet assay), γ-irradiation survival, TUNEL apoptosis assay DNA repair High 23683352
2014 BRIT1 regulates p53 protein stability post-transcriptionally by blocking MDM2-mediated p53 ubiquitination. BRIT1 knockdown in normal breast epithelial cells causes oncogenic transformation. BRIT1 overexpression suppresses breast cancer cell proliferation in vitro and tumor growth in vivo. Co-immunoprecipitation (BRIT1-MDM2-p53), ubiquitination assay, BRIT1 knockdown in MCF10A cells (transformation assay), soft agar colony formation, xenograft tumor model Carcinogenesis High 23729656
2014 BRIT1 phosphorylation at Ser-322 by ATM or ATR in response to replication stress facilitates recruitment of TopBP1 (a key ATR activator) to DNA damage sites, amplifying ATR signaling. BRIT1 is dispensable for ATR initiation but required for amplification of ATR-dependent signaling. Co-immunoprecipitation (BRIT1-TopBP1), phospho-specific antibody for pSer-322, siRNA knockdown, ChIP at damage sites, ATR signaling assays The Journal of biological chemistry Medium 25301947
2018 Both MCPH1 isoforms are phosphorylated in a CDK1-dependent manner during mitosis. Upon mitotic exit, both isoforms are degraded by APC/C-Cdh1 E3 ligase; the long isoform via a D-Box degron and the short isoform via a KEN-Box degron, demonstrating isoform-specific degradation mechanisms. Cell cycle synchronization, phospho-proteomics/site identification, co-immunoprecipitation with APC/C components, proteasome inhibitor experiments, D-box and KEN-box mutagenesis FASEB journal : official publication of the Federation of American Societies for Experimental Biology Medium 30303738
2020 Mcph1 is expressed at mitochondria in apical radial glial cells and controls their proliferation/survival potentially through interactions with VDAC1/GRP75 and AKT/HK2/VDAC1 (mitochondrial activity) and ATF4/PCK2 (glutaminolysis) pathways. Immunofluorescence co-localization (MCPH1 and mitochondrial markers), Mcph1 knockout mouse cortex, transcriptomic analysis, Western blot for pathway components Cell reports Low 32294449
2024 In hematopoietic stem cells, MCPH1 is present in both nucleus (maintaining genomic stability) and cytoplasm (preventing necroptosis by binding phospho-RIPK3). Aging triggers KAT7-mediated acetylation of the MCPH1 NLS motif, promoting nuclear translocation, reducing cytoplasmic MCPH1, and activating RIPK3-dependent necroptosis and HSC deterioration. Subcellular fractionation, co-immunoprecipitation (MCPH1-p-RIPK3), acetylation mapping, KAT7 inhibition/knockdown, NLS acetylation site mutagenesis, HSC functional assays (transplantation), necroptosis inhibitor rescue Nature aging High 38632351
2024 Mcph1 knockout in mice leads to p19ARF upregulation in MEFs, causing CDK-inhibitor p21-dependent cell cycle arrest and cellular senescence. Silencing p19Arf rescues cell cycle and growth arrest to wild-type levels. p53 pathway activation in Mcph1-deficient erythroid precursors leads to Cdkn1a/p21 overexpression. However, p53 inactivation does not reverse anemia or microcephaly in Mcph1-null mice, suggesting p53 activation is a consequence rather than a cause of the proliferation defect. Mcph1 knockout mouse/MEF model, RNA-seq transcriptomics, p19Arf siRNA rescue, cell cycle assays, Mcph1/p53 double-knockout analysis International journal of molecular sciences / EMBO reports Medium 38605277 38731817
2011 In VIP-antagonist-treated mice, reduced Mcph1 expression leads to downregulation of Chk1 and reduced Chk1 kinase activity, turning off neural stem cell proliferation. In vitro silencing of either Mcph1 or Chk1 in neurospheres mimics VIP blockade-induced inhibition of cell proliferation, placing MCPH1 upstream of Chk1 in VIP-mediated cortical development. VIP antagonist mouse model, qRT-PCR, Western blot, Chk1 kinase activity assay, neurosphere siRNA knockdown The Journal of clinical investigation Medium 21737879
2015 The BRUCE UBC E3 ligase domain (not the BIR domain) is required for BRUCE to promote USP8-mediated deubiquitination of BRIT1 after DSB formation; mutation/deletion of the UBC domain does not disrupt BRUCE-USP8-BRIT1 complex formation but impairs BRIT1 deubiquitination, DSB foci formation, and HR repair. UBC domain mutations/deletions, ubiquitination assay, co-immunoprecipitation, immunofluorescence foci assay, HR repair assay PloS one Medium 26683461
2015 Loss of MCPH1 causes a CDK2-dependent increase in STIL levels at centrosomes, driving centrosome amplification (CA) in cancer cells. MCPH1 deep gene deletions occur in 5–15% of human cancers depending on anatomic site. siRNA knockdown in cancer cells, quantitative centrosome immunofluorescence (centriole number), CDK2 inhibition rescue experiment, TCGA genomic analysis for MCPH1 deletions Scientific reports Medium 32681070
2015 MCPH1 binds to the ANGPT2 promoter and recruits DNA methyltransferases to silence ANGPT2 expression via promoter DNA methylation. MCPH1 knockdown causes ANGPT2 upregulation with loss of promoter methylation. ChIP (MCPH1 at ANGPT2 promoter), co-immunoprecipitation (MCPH1-DNMT), methylation analysis, MCPH1 knockdown with promoter methylation assay The FEBS journal Medium 25703238
2019 MCPH1 function is required for cellular adaptation to the G2 decatenation checkpoint (bypass of G2 arrest caused by topoisomerase II inhibition), but is dispensable for activation and maintenance of the decatenation checkpoint itself. MCPH1 does not confer adaptation to ATM/ATR-based DNA damage G2 arrest. MCPH1-depleted HeLa cells, topoisomerase II inhibitor (ICRF-193) G2 arrest assay, checkpoint adaptation assay (live imaging of mitotic entry), ATM/ATR inhibitor comparison FASEB journal : official publication of the Federation of American Societies for Experimental Biology Medium 30964711
2012 MCPH1 represses hTERT promoter activity by directly binding to the proximal hTERT promoter as shown by EMSA. Overexpression of MCPH1 reduces telomerase activity, and siRNA knockdown of MCPH1 abolishes this repression. Luciferase reporter assay with hTERT promoter, EMSA (electrophoretic mobility shift assay), siRNA knockdown, telomerase activity assay (TRAP) Gene Medium 22240313
2022 The central domain of MCPH1 (encoded by exon 8) is essential for brain size, gonad development, and prevention of PCC in vivo. Mcph1-Δe8 mice show reduced brain size, thinner cortex, infertility due to germ cell loss, and PCC in MEFs, phenocopying complete Mcph1 knockout. Mouse model with exon 8 deletion (Mcph1-Δe8), brain morphometry, fertility/gonad histology, MEF chromosome condensation assay Cells Medium 36078123

Source papers

Stage 0 corpus · 98 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway. Nature cell biology 195 21947081
2009 BRIT1/MCPH1 links chromatin remodelling to DNA damage response. Nature cell biology 166 19525936
2005 BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. Proceedings of the National Academy of Sciences of the United States of America 145 16217032
1998 Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. American journal of human genetics 129 9683597
2006 BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer. Cancer cell 122 16872911
2008 Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair. The Journal of biological chemistry 94 18718915
2010 BRIT1/MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability in mice. PLoS genetics 89 20107607
2007 MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage. The Journal of biological chemistry 89 17925396
2008 MCPH1/BRIT1 cooperates with E2F1 in the activation of checkpoint, DNA repair and apoptosis. EMBO reports 75 18660752
2011 MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II. The Journal of cell biology 73 21911480
2007 Distinct BRCT domains in Mcph1/Brit1 mediate ionizing radiation-induced focus formation and centrosomal localization. Oncogene 70 17599047
2006 Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. Cell cycle (Georgetown, Tex.) 66 16434882
2005 SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human genetics 59 16311745
2013 DNA damage response in microcephaly development of MCPH1 mouse model. DNA repair 56 23683352
2019 Transgenic rhesus monkeys carrying the human MCPH1 gene copies show human-like neoteny of brain development. National science review 49 34691896
2012 Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1. Proceedings of the National Academy of Sciences of the United States of America 47 22908299
2010 Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. PloS one 44 20169082
2005 The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Human mutation 44 16211557
2021 MCPH1 inhibits Condensin II during interphase by regulating its SMC2-Kleisin interface. eLife 42 34850681
2015 BRUCE regulates DNA double-strand break response by promoting USP8 deubiquitination of BRIT1. Proceedings of the National Academy of Sciences of the United States of America 41 25733871
2020 Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly. Cell reports 39 32294449
2013 Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma. PloS one 39 23472065
2008 A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. Human molecular genetics 37 18204051
2015 MCPH1: a window into brain development and evolution. Frontiers in cellular neuroscience 36 25870538
2008 Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. Oncology reports 36 18636190
2007 The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo. Journal of cell science 35 17895362
2013 Mcph1-deficient mice reveal a role for MCPH1 in otitis media. PloS one 33 23516444
2010 Multiple roles of BRIT1/MCPH1 in DNA damage response, DNA repair, and cancer suppression. Yonsei medical journal 33 20376879
2009 Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clinical genetics 32 19793310
2011 SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation. The Journal of biological chemistry 29 21515671
2010 MCPH1/BRIT1 limits ionizing radiation-induced centrosome amplification. Oncogene 29 20661222
2016 The DNA damage response molecule MCPH1 in brain development and beyond. Acta biochimica et biophysica Sinica 28 27197793
2011 BRIT1/MCPH1 expression in chronic myeloid leukemia and its regulation of the G2/M checkpoint. Acta haematologica 27 21934293
2014 Emerging roles of MCPH1: expedition from primary microcephaly to cancer. European journal of cell biology 26 24560403
2017 The E3 ubiquitin ligase APC/CCdh1 degrades MCPH1 after MCPH1-βTrCP2-Cdc25A-mediated mitotic entry to ensure neurogenesis. The EMBO journal 25 29150431
2013 Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency. European journal of medical genetics 25 24013099
2012 A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells. PloS one 25 22952573
2022 Multifaceted Microcephaly-Related Gene MCPH1. Cells 23 35053391
2013 Functional divergence of the brain-size regulating gene MCPH1 during primate evolution and the origin of humans. BMC biology 23 23697381
2011 Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex. The Journal of biological chemistry 23 22139841
2006 BRIT1/MCPH1: a guardian of genome and an enemy of tumors. Cell cycle (Georgetown, Tex.) 22 17172830
2016 Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility. PLoS genetics 21 26820313
2014 Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model. Oncogene 21 25362854
2011 VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. The Journal of clinical investigation 21 21737879
2010 MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest. Cell cycle (Georgetown, Tex.) 21 21150325
2017 MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis. Scientific reports 20 29026105
2011 Phylogeny and adaptive evolution of the brain-development gene microcephalin (MCPH1) in cetaceans. BMC evolutionary biology 19 21492470
2012 MCPH1/BRIT1 represses transcription of the human telomerase reverse transcriptase gene. Gene 18 22240313
2020 Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly. Nature communications 17 33203878
2011 Specific recognition of phosphorylated tail of H2AX by the tandem BRCT domains of MCPH1 revealed by complex structure. Journal of structural biology 17 22154951
2021 The N-terminal BRCT domain determines MCPH1 function in brain development and fertility. Cell death & disease 16 33542216
2012 Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. Molecular syndromology 15 22855649
2020 Analysis of the "centrosome-ome" identifies MCPH1 deletion as a cause of centrosome amplification in human cancer. Scientific reports 14 32681070
2018 Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. Molecular genetics & genomic medicine 14 29693325
2014 The overexpression of MCPH1 inhibits cell growth through regulating cell cycle-related proteins and activating cytochrome c-caspase 3 signaling in cervical cancer. Molecular and cellular biochemistry 14 24633962
2013 BRIT1 regulates p53 stability and functions as a tumor suppressor in breast cancer. Carcinogenesis 13 23729656
2015 The UBC Domain Is Required for BRUCE to Promote BRIT1/MCPH1 Function in DSB Signaling and Repair Post Formation of BRUCE-USP8-BRIT1 Complex. PloS one 12 26683461
2018 Overexpression of MCPH1 inhibits the migration and invasion of lung cancer cells. OncoTargets and therapy 11 29872322
2015 Overexpression of MCPH1 inhibits uncontrolled cell growth by promoting cell apoptosis and arresting the cell cycle in S and G2/M phase in lung cancer cells. Oncology letters 11 26870219
2012 Identification and functional characterization of a primate-specific E2F1 binding motif regulating MCPH1 expression. The FEBS journal 11 22136275
2009 A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation. Journal of molecular biology 11 19925808
2018 Expression analysis of the MCPH1/BRIT1 and BRCA1 tumor suppressor genes and telomerase splice variants in epithelial ovarian cancer. Gene 10 29860064
2015 Chromosome structure deficiencies in MCPH1 syndrome. Chromosoma 10 25845520
2015 A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene. Gene 10 26192461
2014 The Drosophila MCPH1-B isoform is a substrate of the APCCdh1 E3 ubiquitin ligase complex. Biology open 10 24972868
2020 Microcephaly family protein MCPH1 stabilizes RAD51 filaments. Nucleic acids research 9 32735676
2018 Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family. Neurosciences (Riyadh, Saudi Arabia) 9 30351297
2014 Primary microcephaly gene MCPH1 shows a novel molecular biomarker of human renal carcinoma and is regulated by miR-27a. International journal of clinical and experimental pathology 9 25197360
2013 MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. European journal of medical genetics 9 24080358
2024 Aging-induced MCPH1 translocation activates necroptosis and impairs hematopoietic stem cell function. Nature aging 8 38632351
2023 The emerging role of MCPH1/BRIT1 in carcinogenesis. Frontiers in oncology 8 36845691
2022 Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. BioMed research international 8 35281599
2020 Investigation of promoter methylation of MCPH1 gene in circulating cell-free DNA of brain tumor patients. Experimental brain research 7 32556427
2019 MCPH1 is essential for cellular adaptation to the G2-phase decatenation checkpoint. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 7 30964711
2015 MCPH1 maintains long-term epigenetic silencing of ANGPT2 in chronic lymphocytic leukemia. The FEBS journal 7 25703238
2014 Phosphorylation of the BRCA1 C terminus (BRCT) repeat inhibitor of hTERT (BRIT1) protein coordinates TopBP1 protein recruitment and amplifies ataxia telangiectasia-mutated and Rad3-related (ATR) Signaling. The Journal of biological chemistry 7 25301947
2012 A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly. JPMA. The Journal of the Pakistan Medical Association 7 23866422
2022 MCPH1: A Novel Case Report and a Review of the Literature. Genes 6 35456440
2022 Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature. Children (Basel, Switzerland) 6 36553323
2022 The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice. Cells 5 36078123
2020 BRIT1 dysfunction confers synergistic inhibition of hepatocellular carcinoma by targeting poly (ADP-ribose) polymerases and PI3K. American journal of cancer research 5 32642299
2009 The linkage of chromatin remodeling to genome maintenance: contribution from a human disease gene BRIT1/MCPH1. Epigenetics 5 19829069
2018 Phosphorylation of MCPH1 isoforms during mitosis followed by isoform-specific degradation by APC/C-CDH1. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 4 30303738
2017 BRCT-domain protein BRIT1 influences class switch recombination. Proceedings of the National Academy of Sciences of the United States of America 4 28724724
2020 Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis. Journal of pediatric genetics 3 32714618
2024 The analyses of human MCPH1 DNA repair machinery and genetic variations. Open medicine (Warsaw, Poland) 2 38463519
2020 Generation of a MCPH1 knockout human embryonic stem cell line by CRISPR/Cas9 technology. Stem cell research 2 33370873
2019 Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2 30859703
2018 Silencing BRIT1 Facilitates the Abilities of Invasiveness and Migration in Trophoblast Cells. Medical science monitor : international medical journal of experimental and clinical research 2 30337515
2017 CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1. Molecular cytogenetics 2 28878824
2009 The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. American journal of medical genetics. Part A 2 19267414
2024 Microcephaly Gene Mcph1 Deficiency Induces p19ARF-Dependent Cell Cycle Arrest and Senescence. International journal of molecular sciences 1 38731817
2024 Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly. Heliyon 1 38818167
2020 MCPH1 Lack of Function Enhances Mitotic Cell Sensitivity Caused by Catalytic Inhibitors of Topo II. Genes 1 32276518
2026 Differential sensitivity of MCPH1- and BRCA2-deficient cancer cells to PARP-1 inhibition. PloS one 0 41931484
2024 Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis. EMBO reports 0 38605277
2024 Generation and analysis of mouse embryonic stem cells with knockout of the Mcph1 (microcephalin) gene. Vavilovskii zhurnal genetiki i selektsii 0 39280843
2016 The Impact of rs3762271 and rs930557 Polymorphisms of ASPM and MCPH1 Genes on the Anatomy and Function of the Brain. Biological research for nursing 0 26912502

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