Affinage

SON

Protein SON · UniProt P18583

Length
2426 aa
Mass
263.8 kDa
Annotated
2026-06-10
100 papers in source corpus 20 papers cited in narrative 20 extracted findings
Cross-family judge vs UniProt: tie faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SON is a large Ser/Arg-rich nuclear speckle protein that functions as a splicing cofactor, promoting efficient co-transcriptional splicing of pre-mRNAs that carry weak splice sites by facilitating the engagement of SR proteins with RNA Pol II and spliceosome components (PMID:21504830, PMID:22193954). Together with SRRM2 it constitutes the structural core of nuclear speckles, and combined loss of both proteins drives near-complete dissolution of these subnuclear bodies and disorganization of SR proteins and snRNPs (PMID:33095160, PMID:20053686). Through accurate splicing of defined target sets, SON enforces orderly mitotic progression—its depletion mis-splices cell-cycle regulators, causing spindle and chromosome segregation defects, MAD2-dependent mitotic delay, aneuploidy, and centriole/ciliogenesis defects via control of CEP131 splicing (PMID:21504830, PMID:20581448, PMID:34406792). The same splicing-cofactor activity supports developmental and stem-cell programs: SON binds and correctly splices transcripts encoding pluripotency factors (OCT4, PRDM14, E4F1, MED24) in human embryonic stem cells, and governs hematopoietic stem cell commitment where its protein output is tuned by m6A methylation of SON mRNA, suppressing a METTL3-driven inflammatory program and sustaining MYC (PMID:24013217, PMID:38065069). Beyond splicing, SON binds DNA near transcription start sites and interacts with menin to inhibit MLL-complex assembly and H3K4me3-dependent transcription, an activity antagonized by short SON isoforms upregulated in AML that retain chromatin occupancy but lack the menin-binding domain (PMID:26990989). De novo heterozygous loss-of-function mutations in SON cause a neurodevelopmental disorder driven by mis-splicing of genes required for neuronal migration and metabolism (PMID:27545680).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1994 Medium

    Established the existence and genomic identity of SON, framing it as a conserved DNA-binding nuclear protein before any functional mechanism was known.

    Evidence cDNA cloning, somatic cell hybrid PCR mapping, and Southern blotting

    PMID:8031013

    Open questions at the time
    • No molecular activity or pathway defined
    • DNA-binding specificity not resolved
  2. 2001 Medium

    First sequence-specific function: SON was shown to bind a defined consensus in the HBV core promoter negative regulatory element and repress viral transcription, indicating a transcriptional repressor activity.

    Evidence Expression cloning, gel shift with antibody supershift, binding-site selection, and reporter assays

    PMID:11306577

    Open questions at the time
    • Repression mechanism on endogenous host genes not addressed
    • Link to splicing role not yet established
  3. 2008 Medium

    Connected SON to leukemic transformation, showing it physically associates with AML1-ETO and is required for cell growth, with abnormal cytoplasmic relocalization in t(8;21) AML.

    Evidence Co-IP, siRNA knockdown with rescue, and immunofluorescence localization

    PMID:18952841

    Open questions at the time
    • Molecular basis of growth requirement not defined
    • Single lab, no reciprocal interaction validation
  4. 2010 High

    Localized SON precisely to nuclear speckles and demonstrated it is required for the subnuclear organization of splicing factors, with mitotic arrest upon depletion, placing SON within the splicing machinery.

    Evidence RNAi knockdown with high-resolution and immunofluorescence imaging

    PMID:20053686

    Open questions at the time
    • Did not define the molecular splicing activity
    • Targets of mis-regulation unknown at this stage
  5. 2011 High

    Defined SON's core mechanism as a splicing cofactor that promotes efficient co-transcriptional splicing of weak-splice-site pre-mRNAs—including cell-cycle genes—by linking SR proteins to Pol II and the spliceosome, explaining its mitotic phenotypes.

    Evidence RNAi, splicing assays, Co-IP, live-cell mitosis imaging, and MAD2 epistasis

    PMID:20581448 PMID:21504830

    Open questions at the time
    • Direct biochemical contacts with SR proteins/Pol II not structurally resolved
    • Rules governing weak-site target selection unclear
  6. 2011 Medium

    Showed SON acts at active transcription sites to prevent exon skipping in a defined target set spanning chromatin-modifying enzymes, generalizing its splicing role genome-wide.

    Evidence RNAi, in situ hybridization to minigene transcription site, exon microarray, RT-PCR

    PMID:22193954

    Open questions at the time
    • Determinants of target specificity not defined
    • Direct RNA contact sites not mapped
  7. 2013 High

    Extended the splicing function to cell-fate control, showing SON binds and properly splices pluripotency-regulator transcripts and that its loss collapses pluripotency, and separately couples SON to GATA-2 via a miRNA cluster.

    Evidence RIP, genome-wide RNA profiling, RT-PCR splicing assays, miRNA quantification, 3'-UTR reporters

    PMID:23322776 PMID:24013217

    Open questions at the time
    • miR-23a~27a cluster regulation by SON shown indirectly (no direct promoter binding)
    • How SON discriminates pluripotency transcripts unknown
  8. 2016 High

    Revealed a chromatin-based, splicing-independent function: SON binds near TSSs and engages menin to inhibit MLL/H3K4me3 transcription, with AML-associated short isoforms acting as dominant antagonists.

    Evidence ChIP-seq, Co-IP, chromatin fractionation, isoform overexpression, hematopoietic replating

    PMID:26990989

    Open questions at the time
    • Structural basis of SON-menin interaction not resolved
    • Genome-wide overlap of repressive vs splicing targets unclear
  9. 2016 High

    Defined SON as a human disease gene: de novo loss-of-function mutations cause a neurodevelopmental disorder through accumulation of mis-spliced neuronal-migration and metabolic transcripts.

    Evidence Patient-derived cell RNA splicing analysis, zebrafish son knockdown, exome sequencing

    PMID:27545680

    Open questions at the time
    • Quantitative threshold of haploinsufficiency not defined
    • Which mis-spliced targets are causal for each phenotype unresolved
  10. 2016 Medium

    Identified a scaffolding role at speckles, with SON anchoring FAM83H-recruited casein kinase 1 isoforms, broadening SON's contribution to speckle organization beyond splicing.

    Evidence Co-IP/MS interactome, RNAi knockdown, immunofluorescence

    PMID:27681590

    Open questions at the time
    • Functional consequence of CK1 speckle localization not established
    • Single lab
  11. 2020 High

    Resolved the architecture of nuclear speckles, establishing SON and SRRM2 as the co-essential structural core whose combined loss dissolves speckles.

    Evidence RNAi, genetic deletion of SRRM2 IDRs, high-resolution fluorescence microscopy

    PMID:33095160

    Open questions at the time
    • Biophysical basis of SON's contribution to speckle assembly not defined
    • Relative roles of SON's domains in scaffolding unclear
  12. 2020 Medium

    Linked SON to neuronal migration in vivo and to innate immune/autophagy programs, extending its splicing function to corticogenesis and macrophage biology (via GBF1 splicing).

    Evidence In utero electroporation knockdown with WT/truncated rescue; RNAi, RT-PCR, chemical GBF1 inhibition, autophagy/inflammasome assays

    PMID:32448361 PMID:32484234

    Open questions at the time
    • GBF1 link is an indirect phenocopy, not direct
    • Isoform-specific rescue thresholds incompletely defined
  13. 2021 High

    Showed SON drives splicing networks in cancer and centrosome/cilium biology—maintaining PTBP1 and CEP131 splicing and partnering with hnRNP A2B1 to antagonize RBFOX2-mediated splicing.

    Evidence RNAi, RNA-seq splicing analysis, Co-IP, EM of centrosomes, orthotopic xenografts

    PMID:34406792 PMID:34548489

    Open questions at the time
    • Direct vs indirect splicing targets not fully separated
    • Mechanism of hnRNP A2B1 antagonism of RBFOX2 not resolved
  14. 2023 High

    Established post-transcriptional control of SON itself: m6A methylation of SON mRNA tunes SON protein levels during HSC commitment, with SON suppressing a METTL3-driven inflammatory program and rescuing MYC.

    Evidence m6A profiling, conditional Son KO, rescue/overexpression, engraftment assays, transcriptional analysis

    PMID:38065069

    Open questions at the time
    • Reader/writer machinery acting on SON mRNA not fully defined
    • Direct vs indirect control of CCL5/MYC not separated

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SON's distinct activities—weak-splice-site splicing cofactor, speckle scaffold, and menin-dependent chromatin repressor—are coordinated, and what structural features dictate target selection, remains unresolved.
  • No structural model of SON's RNA/DNA/protein-binding domains
  • Rules for weak-splice-site target recognition undefined
  • Crosstalk between speckle scaffolding and transcriptional repression unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003677 DNA binding 3 GO:0003723 RNA binding 3 GO:0005198 structural molecule activity 2 GO:0140110 transcription regulator activity 2
Localization
GO:0005654 nucleoplasm 3 GO:0005634 nucleus 2 GO:0005694 chromosome 1
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-8953854 Metabolism of RNA 3 R-HSA-1640170 Cell Cycle 2 R-HSA-74160 Gene expression (Transcription) 2
Partners
AML1-ETOFAM83HHNRNP A2B1MENINSRRM2
Complex memberships
nuclear speckle (SON-SRRM2 core)spliceosome

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2020 SON and SRRM2 together form the organizational core of nuclear speckles. Depletion of SON alone causes partial disassembly, but co-depletion of SON and SRRM2, or depletion of SON in cells lacking SRRM2's intrinsically disordered regions, leads to near-complete dissolution of nuclear speckles. RNAi knockdown, genetic deletion of SRRM2 IDRs, high-resolution fluorescence microscopy eLife High 33095160
2011 SON is a splicing cofactor that facilitates efficient co-transcriptional splicing of cell-cycle-related pre-mRNAs with weak splice sites. SON depletion leads to impaired spindle pole separation, defective microtubule dynamics, and genome instability due to mis-splicing of a specific set of cell-cycle genes. SON also facilitates interaction of SR proteins with RNA Pol II and spliceosome components. RNAi knockdown, RNA splicing assays, co-immunoprecipitation, live-cell imaging of mitosis Molecular cell High 21504830
2010 SON localizes precisely to nuclear speckles and is required for proper subnuclear organization of SR proteins and snRNPs. RNAi-mediated depletion of SON causes dramatic disorganization of splicing factors and cell cycle arrest in metaphase. RNAi knockdown, high-resolution fluorescence microscopy, immunofluorescence Molecular biology of the cell High 20053686
2013 SON regulates proper splicing of transcripts encoding pluripotency regulators OCT4, PRDM14, E4F1, and MED24 in human embryonic stem cells. SON is bound to these transcripts in vivo, and its depletion causes loss of pluripotency and cell death. RNAi knockdown, RNA immunoprecipitation (RIP), genome-wide RNA profiling, RT-PCR splicing assays Nature cell biology High 24013217
2016 De novo heterozygous loss-of-function mutations in SON cause accumulation of mis-spliced transcripts from genes critical for neuronal migration (TUBG1, FLNA, PNKP, WDR62, PSMD3, HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, ADA), establishing SON as a master regulator of RNA splicing required for neurodevelopment. RNA analysis from patient-derived cells, zebrafish son knockdown, exome sequencing American journal of human genetics High 27545680
2016 SON binds DNA near transcription start sites and interacts with menin to inhibit MLL complex assembly, resulting in decreased H3K4me3 and transcriptional repression. Alternatively spliced short isoforms of SON, upregulated in AML, lack the menin-binding domain and compete with full-length SON for chromatin occupancy, antagonizing SON-mediated transcriptional repression without impairing splicing function. ChIP-seq, Co-IP, chromatin fractionation, overexpression of isoforms, hematopoietic replating assays Molecular cell High 26990989
2011 SON is a component of the spliceosome and is required for mitotic progression. SON inactivation triggers MAD2-dependent mitotic delay, defective chromosome congression, compromised chromosome segregation and cytokinesis, leading to aneuploidy and cell death. RNAi knockdown, flow cytometry, live-cell imaging, MAD2 epistasis Cell cycle Medium 20581448
2011 SON depletion causes exon skipping in a specific set of pre-mRNAs including chromatin-modifying enzymes (ADA, HDAC6, SetD8). SON localizes to a reporter minigene transcription site and RNAi depletion causes exon skipping on reporter transcripts at this site. Genome-wide exon microarray identified SON-regulated splicing targets across multiple cellular pathways. RNAi knockdown, in situ hybridization to transcription site, exon microarray, RT-PCR Journal of cell science Medium 22193954
2001 SON/NREBP (also called DBP-5, SONB, SONA) encodes a nuclear protein that binds a specific consensus sequence GA(G/T)AN(C/G)(A/G)CC in the negative regulatory element (NRE) of the HBV core promoter. Overexpression of NREBP/SON enhances NRE-mediated repression of the HBV core promoter and represses transcription of HBV genes and virion production. Expression cloning, gel shift assay with antibody supershift, PCR-assisted binding site selection, transient transfection reporter assays The Journal of biological chemistry Medium 11306577
2008 SON interacts with the NHR4 domain of AML1-ETO via a zinc-chelating structural interface. SON knockdown by siRNA causes significant growth arrest, and disruption of AML1-ETO–SON interaction rescues cells from AML1-ETO-induced growth arrest, indicating SON is required for cell growth. In t(8;21) AML cells, SON is abnormally localized to the cytoplasm. Co-immunoprecipitation, siRNA knockdown, growth assays, immunofluorescence localization Proceedings of the National Academy of Sciences of the United States of America Medium 18952841
2013 SON regulates GATA-2 protein levels in hematopoietic cells by suppressing the promoter of the miR-23a~27a~24-2 cluster. SON knockdown leads to upregulation of miR-27a, which targets the 3'-UTR of GATA-2 mRNA, causing depletion of GATA-2 protein. RNAi knockdown, miRNA quantification, 3'-UTR reporter assays, promoter activity assays The Journal of biological chemistry Medium 23322776
2021 SON acts as a master splicing regulator in glioblastoma by maintaining proper splicing of PTBP1 transcripts (SON knockdown causes intron retention and PTBP1 downregulation) and by forming a complex with hnRNP A2B1 to antagonize RBFOX2-mediated neuronal splicing. SON knockdown suppresses GBM cell proliferation and tumor growth in orthotopic xenografts. RNAi knockdown, RNA-seq splicing analysis, Co-IP, in vivo xenograft models Nature communications High 34548489
2021 SON is required for proper splicing and expression of CEP131 (a centriolar satellite protein), and through this mechanism controls the microtubule trafficking network around centrosomes required for procentriole assembly and ciliogenesis. RNAi knockdown, whole-genome mRNA sequencing, RT-PCR splicing validation, electron microscopy of centrosome ultrastructure Molecular biology of the cell Medium 34406792
2016 CK1α (casein kinase 1α) is recruited to nuclear speckles by FAM83H, which uses SON as a scaffold protein. Knockdown of FAM83H or SON delocalizes CK1α, CK1δ, and CK1ε from nuclear speckles. Interactome analysis (Co-IP/MS), RNAi knockdown, immunofluorescence Scientific reports Medium 27681590
2023 SON protein is an essential target of m6A RNA methylation in hematopoietic stem cells. m6A methylation of Son mRNA increases during HSC commitment; upon m6A depletion, Son mRNA increases but SON protein is depleted. SON reintroduction rescues defects in HSC symmetric commitment and engraftment. Mechanistically, SON suppresses the METTL3-HSC inflammatory gene expression program including CCL5 and rescues MYC through transcriptional regulation. m6A global profiling, SON rescue experiments, Son conditional knockout, overexpression, engraftment assays, transcriptional analysis Cell stem cell High 38065069
2020 SON is required for macrophage autophagy, type I interferon response (IRF3 expression), and inflammasome-associated readouts. SON controls accurate splicing and expression of GBF1, a mediator of cis-Golgi structure; chemical GBF1 inhibition phenocopies SON knockdown, suggesting SON controls macrophage functions at least partly through Golgi-associated processes. RNAi knockdown, RT-PCR splicing assays, chemical inhibition, autophagy and inflammasome functional assays FEBS letters Medium 32484234
2012 SON knockdown suppresses pancreatic cancer cell proliferation, survival, and tumorigenicity in xenograft models. SON depletion induces G2/M arrest and apoptosis. Live-cell imaging showed SON forms nuclear speckles during interphase, disperses diffusely in early mitosis, accumulates in cytoplasmic foci in late mitosis, and reassembles into speckles after mitosis. RNAi knockdown screening, flow cytometry, xenograft assays, live-cell imaging Molecular cancer Medium 23227827
2019 SON haploinsufficiency leads to abnormal pre-mRNA splicing of established CAKUT genes in kidney cell lines and patient-derived cells, resulting in decreased expression of these genes and causing renal developmental phenotypes. RT-PCR splicing assays in cell lines and patient-derived cells, RNAi knockdown Kidney international Medium 31005274
2020 Son knockdown in neural progenitors in mice causes defective neuronal migration during corticogenesis and reduced dendritic spine density. Rescue with wild-type human SON confirmed SON insufficiency as causal. Truncated SON proteins from ZTTK disease mutations showed differential rescue capacity depending on protein length. In utero electroporation knockdown, rescue with wild-type and truncated SON constructs, immunofluorescence, spine density quantification Molecular brain Medium 32448361
1994 The SON gene encodes a conserved DNA-binding protein that maps to human chromosome 21q22.1-q22.2. The protein is expressed across different cell types and has homologous sequences in vertebrates and insects. cDNA cloning, somatic cell hybrid panel PCR, Southern blotting Annals of human genetics Medium 8031013

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1993 Binding of the Ras activator son of sevenless to insulin receptor substrate-1 signaling complexes. Science (New York, N.Y.) 283 8391166
2000 Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. American journal of human genetics 268 10762544
2022 Cell death and inflammation during obesity: "Know my methods, WAT(son)". Cell death and differentiation 225 36175539
2020 SON and SRRM2 are essential for nuclear speckle formation. eLife 204 33095160
1991 Genetic dissection of a neurodevelopmental pathway: Son of sevenless functions downstream of the sevenless and EGF receptor tyrosine kinases. Cell 195 1846090
2001 The skeletal muscle satellite cell: stem cell or son of stem cell? Differentiation; research in biological diversity 179 11776472
2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing. Molecular cell 134 21504830
2010 Son is essential for nuclear speckle organization and cell cycle progression. Molecular biology of the cell 112 20053686
1995 Prolactin activates Ras via signaling proteins SHC, growth factor receptor bound 2, and son of sevenless. Endocrinology 105 7628388
1995 Disassembly of Son-of-sevenless proteins from Grb2 during p21ras desensitization by insulin. The Journal of biological chemistry 105 7829473
2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. Nature cell biology 89 24013217
2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. American journal of human genetics 88 27545680
2006 Son of sevenless directly links the Robo receptor to rac activation to control axon repulsion at the midline. Neuron 85 17114045
1994 Phosphorylation of the Ras nucleotide exchange factor son of sevenless by mitogen-activated protein kinase. The Journal of biological chemistry 74 8106439
2021 Targeting Son of Sevenless 1: The pacemaker of KRAS. Current opinion in chemical biology 73 33848766
2017 Inflammatory Cytokines as Uremic Toxins: "Ni Son Todos Los Que Estan, Ni Estan Todos Los Que Son". Toxins 67 28333114
2002 Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. American journal of human genetics 67 12152148
2011 Understanding SOS (Son of Sevenless). Biochemical pharmacology 66 21787760
2011 Mammalian son of sevenless Guanine nucleotide exchange factors: old concepts and new perspectives. Genes & cancer 65 21779500
2013 Distinct synaptic mechanisms create parallel S-ON and S-OFF color opponent pathways in the primate retina. Visual neuroscience 63 23895762
1997 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene. Muscle & nerve 59 8995589
2019 The Interdependent Activation of Son-of-Sevenless and Ras. Cold Spring Harbor perspectives in medicine 56 29610148
1997 Impaired plasma membrane targeting of Grb2-murine son of sevenless (mSOS) complex and differential activation of the Fyn-T cell receptor (TCR)-zeta-Cbl pathway mediate T cell hyporesponsiveness in autoimmune nonobese diabetic mice. The Journal of experimental medicine 54 9294143
2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON. The Journal of biological chemistry 53 11306577
2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. American journal of human genetics 52 27545676
2011 Phenotype of FOXP2 haploinsufficiency in a mother and son. American journal of medical genetics. Part A 50 22106036
2010 Mutation rate estimates for 110 Y-chromosome STRs combining population and father-son pair data. European journal of human genetics : EJHG 48 20823913
2011 Son maintains accurate splicing for a subset of human pre-mRNAs. Journal of cell science 46 22193954
2016 SON and Its Alternatively Spliced Isoforms Control MLL Complex-Mediated H3K4me3 and Transcription of Leukemia-Associated Genes. Molecular cell 45 26990989
1994 The Sos (Son of sevenless) protein. Trends in endocrinology and metabolism: TEM 45 18407204
2010 Allosteric gating of Son of sevenless activity by the histone domain. Proceedings of the National Academy of Sciences of the United States of America 44 20133694
2008 Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis. Proceedings of the National Academy of Sciences of the United States of America 44 18952841
1998 Differential interactions of the growth factor receptor-bound protein 2 N-SH3 domain with son of sevenless and dynamin. Potential role in the Ras-dependent signaling pathway. The Journal of biological chemistry 42 9478994
2006 Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs. International journal of legal medicine 39 17106736
2021 SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity. Nature communications 38 34548489
2016 Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. American journal of medical genetics. Part A 38 27256762
2007 Analysis of mutations in father-son pairs with 17 Y-STR loci. Forensic science international. Genetics 37 19083812
2000 Calmodulin and son of sevenless dependent signaling pathways regulate midline crossing of axons in the Drosophila CNS. Development (Cambridge, England) 37 10751187
2015 Slit-Dependent Endocytic Trafficking of the Robo Receptor Is Required for Son of Sevenless Recruitment and Midline Axon Repulsion. PLoS genetics 36 26335920
2013 Parents' experience of living with and caring for an adult son or daughter with schizophrenia at home in Ireland: a qualitative study. Journal of psychiatric and mental health nursing 35 23593964
2014 The role of SON in splicing, development, and disease. Wiley interdisciplinary reviews. RNA 34 24789761
2000 Significance of the Grb2 and son of sevenless (Sos) proteins in human bladder cancer cell lines. IUBMB life 34 10995035
2016 Casein kinase 1 is recruited to nuclear speckles by FAM83H and SON. Scientific reports 33 27681590
2013 Bartonella henselae bacteremia in a mother and son potentially associated with tick exposure. Parasites & vectors 33 23587194
2010 SON is a spliceosome-associated factor required for mitotic progression. Cell cycle (Georgetown, Tex.) 33 20581448
2013 SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster. The Journal of biological chemistry 32 23322776
2021 Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. European journal of human genetics : EJHG 31 34521999
1996 Carbon-11 and iodine-123 labelled iomazenil: a direct PET-SPET compari son. European journal of nuclear medicine 30 8586102
1993 Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively. Genomics 30 8276400
2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes. Genomics 28 10950926
2019 Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T. Molecular genetics & genomic medicine 27 31557424
2014 Haplotype and mutation analysis for newly suggested Y-STRs in Korean father-son pairs. Forensic science international. Genetics 27 25459034
2010 Induction of the Ras activator Son of Sevenless 1 by environmental pollutants mediates their effects on cellular proliferation. Biochemical pharmacology 26 20950586
1996 Differential expression of tenascin by astrocytes associated with the supraoptic nucleus (SON) of hydrated and dehydrated adult rats. The Journal of comparative neurology 25 8889921
2024 Discovery of a Potent Dual Son of Sevenless 1 (SOS1) and Epidermal Growth Factor Receptor (EGFR) Inhibitor for the Treatment of Prostate Cancer. Journal of medicinal chemistry 24 38630077
1994 The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21. Annals of human genetics 24 8031013
2023 Development of Son of Sevenless Homologue 1 (SOS1) Modulators To Treat Cancers by Regulating RAS Signaling. Journal of medicinal chemistry 22 36987571
2020 Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. Molecular genetics & genomic medicine 22 32705777
2018 Structural characterization of 14-3-3ζ in complex with the human Son of sevenless homolog 1 (SOS1). Journal of structural biology 22 29408703
2014 New discoveries of old SON: a link between RNA splicing and cancer. Journal of cellular biochemistry 22 24030980
1981 Axial osteomalacia. Clinical, laboratory and genetic investigation of an affected mother and son. The American journal of medicine 22 7315848
2019 SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney international 21 31005274
2013 Regulation of Son of sevenless by the membrane-actin linker protein ezrin. Proceedings of the National Academy of Sciences of the United States of America 21 24297905
2006 Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son. The Journal of clinical endocrinology and metabolism 20 16418210
2006 Characterization of fibroblasts with Son of Sevenless-1 mutation. Journal of dental research 20 17062749
2020 Ubiquitin-specific peptide 22 acts as an oncogene in gastric cancer in a son of sevenless 1-dependent manner. Cancer cell international 19 32063746
2016 Growth rate evolution in improved environments under Prodigal Son dynamics. Evolutionary applications 19 27695525
2003 Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. Clinical genetics 19 12694234
1998 Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette. European journal of human genetics : EJHG 19 9781047
1987 Familial retinoblastoma (mother and son) with 13q14 deletion. Human genetics 18 3653883
2012 Targeting of MAPK-associated molecules identifies SON as a prime target to attenuate the proliferation and tumorigenicity of pancreatic cancer cells. Molecular cancer 17 23227827
2010 Galpha16 activates Ras by forming a complex with tetratricopeptide repeat 1 (TPR1) and Son of Sevenless (SOS). Cellular signalling 17 20639119
2024 Father's diet influences son's metabolic health through sperm RNA. Nature 16 38839997
2020 A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome. Molecular genetics & genomic medicine 16 32926520
2020 Assessing 23 Y-STR loci mutation rates in Chinese Han father-son pairs from southwestern China. Molecular biology reports 16 32989501
2014 Father-son chats: inheriting stress through sperm RNA. Cell metabolism 16 24896534
1988 Localization and pharmacology of some dopamine receptor complexes in the striatum and the pituitary gland: synaptic and son-synaptic communication. Acta morphologica Neerlando-Scandinavica 16 2855385
1975 Germ-cell malignant tumours in father and son. Canadian Medical Association journal 16 1168534
2023 SON is an essential m6A target for hematopoietic stem cell fate. Cell stem cell 15 38065069
2020 Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Pediatric dermatology 15 32045494
2020 Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities. Molecular brain 15 32448361
2015 The Father, Son and Cholix Toxin: The Third Member of the DT Group Mono-ADP-Ribosyltransferase Toxin Family. Toxins 15 26213968
2014 Genetic data and de novo mutation rates in father-son pairs of 23 Y-STR loci in Southern Brazil population. International journal of legal medicine 15 25391811
2012 Cell-type specific expression of the vasopressin gene analyzed by AAV mediated gene delivery of promoter deletion constructs into the rat SON in vivo. PloS one 15 23155418
2011 Effects of A-CREB, a dominant negative inhibitor of CREB, on the expression of c-fos and other immediate early genes in the rat SON during hyperosmotic stimulation in vivo. Brain research 15 22079318
2022 Mutation analysis for newly suggested 30 Y-STR loci with high mutation rates in Chinese father-son pairs. Scientific reports 14 36127390
2019 Genetic characterisation of 13 rapidly mutating Y-STR loci in 100 father and son pairs from South and East Turkey. Annals of human biology 14 30616447
2020 A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome. Journal of clinical laboratory analysis 13 32291808
2018 Haplotypic polymorphisms and mutation rate estimates of 22 Y-chromosome STRs in the Northern Chinese Han father-son pairs. Scientific reports 13 29739989
2013 Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. Ophthalmic genetics 13 24093488
1997 Upregulation of neuronal NOS mRNA in the PVN and SON of inherited diabetes insipidus rats. Neuroreport 13 9462464
2022 RMplex reveals population differences in RM Y-STR mutation rates and provides improved father-son differentiation in Japanese. Forensic science international. Genetics 12 36007266
2021 The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis. Molecular biology of the cell 12 34406792
1997 The significance of Ras guanine nucleotide exchange factor, son of sevenless protein, in renal cell carcinoma cell lines. The Journal of urology 12 9258117
2023 Sequence-based mutation patterns at 41 Y chromosomal STRs in 2 548 father-son pairs. Forensic sciences research 11 37621447
2020 SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection. FEBS letters 11 32484234
2013 Mutation rate at 17 Y-STR loci in "Father/Son" pairs from moroccan population. Legal medicine (Tokyo, Japan) 11 23623014
2005 Associations of middle-aged mother's but not father's body mass index with 18-year-old son's waist circumferences, birth weight, and serum hepatic enzyme levels. Metabolism: clinical and experimental 11 15798952
2023 SON-1210 - a novel bifunctional IL-12 / IL-15 fusion protein that improves cytokine half-life, targets tumors, and enhances therapeutic efficacy. Frontiers in immunology 10 38250068
2013 A novel mutation in a mother and a son with Aarskog-Scott syndrome. Journal of pediatric endocrinology & metabolism : JPEM 10 23443263

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