Affinage

SALL1

Sal-like protein 1 · UniProt Q9NSC2

Length
1324 aa
Mass
140.4 kDa
Annotated
2026-06-10
100 papers in source corpus 29 papers cited in narrative 29 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SALL1 is a C2H2 multi-zinc-finger transcription factor that governs progenitor cell fate decisions in multiple developmental contexts by coupling sequence-specific chromatin association to corepressor recruitment (PMID:9425907, PMID:17295837). Its C-terminal double zinc fingers (7th–10th) bind A/T-rich major satellite DNA and target the protein to pericentromeric heterochromatin, where it partially co-localizes with HP1 (PMID:11751684, PMID:17295837), while a conserved 12-amino-acid N-terminal motif (RRKQXK-PXXF) is sufficient to recruit the NuRD nucleosome-remodeling and deacetylase complex (HDAC1/2, RbAp46/48, MTA1/2), conferring potent transcriptional repression that is partially HDAC-dependent (PMID:11836251, PMID:16707490). SALL1 can act as both repressor and activator depending on context: it directly represses targets such as Gbx2 in a NuRD-dependent manner (PMID:16707490), yet activates progenitor-specific genes in nephron progenitors (PMID:24744442). NuRD recruitment is regulated by PKC phosphorylation of the repression motif, and SALL1 is also SUMOylated at K1086 (PMID:12200128, PMID:17895244). In kidney development, SALL1 is activated downstream of SIX1/Eya1 (PMID:16670092) and is essential for ureteric bud induction, restraining ectopic Wnt9b/β-catenin signaling at the bud tip, and maintaining Six2+ nephron progenitor self-renewal while restraining premature differentiation—functions that require its physical interaction with Six2 and an intact NuRD-recruitment motif (PMID:11688560, PMID:20702564, PMID:24744442, PMID:28760814). In the CNS, SALL1 is expressed exclusively by microglia and maintains their resting, ramified identity by enforcing microglia-specific TGFβ-SMAD4 genomic responses (PMID:27776109, PMID:37322178). Disease-causing truncations that remove the zinc fingers but retain the NuRD-recruitment domain act as dominant-negatives, mislocalizing Sall family heterodimer partners and causing Townes-Brocks syndrome (PMID:9425907, PMID:12915476, PMID:16790473).

Mechanistic history

Synthesis pass · year-by-year structured walk · 25 steps
  1. 1998 Medium

    Establishing the gene's identity, this work showed that heterozygous truncating SALL1 mutations cause Townes-Brocks syndrome, defining SALL1 as a zinc-finger transcription factor required for organogenesis.

    Evidence Genetic sequencing of TBS families with predicted protein truncation analysis

    PMID:9425907

    Open questions at the time
    • Mechanism inferred from domain prediction, not biochemical assay
    • No direct demonstration of dominant-negative vs haploinsufficiency at this stage
  2. 2001 High

    Mouse knockout placed Sall1 in the inductive signaling step of kidney development rather than terminal differentiation, showing it is required for ureteric bud invasion of the metanephric mesenchyme.

    Evidence Targeted gene knockout in mice with histology and in situ hybridization

    PMID:11688560

    Open questions at the time
    • Molecular targets mediating the inductive signal not identified
    • Did not address transcriptional mechanism
  3. 2001 High

    Imaging and interaction studies established SALL1 as a heterochromatin-associated transcriptional repressor, linking it to pericentromeric foci and HP1.

    Evidence GFP-fusion microscopy, reporter assays, yeast two-hybrid and GST pulldown

    PMID:11751684

    Open questions at the time
    • DNA sequence specificity not defined
    • PIN2/TRF1 interaction functional consequence unclear
  4. 2002 High

    Biochemistry identified the molecular basis of repression: the N-terminus recruits HDAC/chromatin-remodeling complex components, with HDAC inhibition only partially relieving repression.

    Evidence Luciferase repression assays, Co-IP with HDAC complex components, deletion analysis, TSA treatment

    PMID:11836251

    Open questions at the time
    • Minimal recruitment motif not yet defined
    • HDAC-independent repression component unexplained
  5. 2002 High

    Post-translational regulation was established by showing SALL1 is SUMOylated at a defined lysine via UBE2I, adding a modification layer to its activity.

    Evidence Yeast two-hybrid, GST pulldown, in vitro SUMOylation assay with K1086R mutagenesis

    PMID:12200128

    Open questions at the time
    • Functional consequence of SUMOylation on transcription not shown
    • In vivo relevance not tested
  6. 2003 High

    A knock-in model resolved the disease mechanism, demonstrating that truncated Sall1 acts as a dominant-negative/gain-of-function that recapitulates TBS, distinct from the null allele, by binding and mislocalizing Sall family members.

    Evidence Truncated Sall1 knock-in mice, Co-IP, phenotypic comparison with null

    PMID:12915476

    Open questions at the time
    • Specific mislocalized targets driving each phenotype not isolated
    • Did not map the heterodimerization interface
  7. 2006 High

    The repression machinery was pinned to a precise 12-amino-acid motif sufficient to recruit the NuRD complex with intrinsic HDAC activity, defining a general Sall-family NuRD-recruitment mechanism.

    Evidence Co-IP of endogenous Sall1-NuRD, HDAC activity assay, single-residue mutagenesis, peptide recruitment

    PMID:16707490

    Open questions at the time
    • Genomic loci recruited via this motif not mapped in this study
    • Regulation of motif activity not addressed
  8. 2006 Medium

    Upstream regulation was identified, showing SIX1 (with Eya1) directly binds and activates the SALL1 promoter during kidney development.

    Evidence Reporter assay, EMSA, ChIP, transient transfection

    PMID:16670092

    Open questions at the time
    • Single lab
    • In vivo requirement of the SIX1 element not tested
  9. 2006 Medium

    Domain mapping revealed a second, central repression domain that itself localizes to heterochromatin, refining the modular architecture of SALL1.

    Evidence Deletion mapping with reporter assay and GFP-fragment microscopy

    PMID:16443351

    Open questions at the time
    • Mechanism of central-domain repression undefined
    • Overlaps with prior localization findings
  10. 2007 High

    DNA-binding specificity was established, mapping heterochromatin targeting to the C-terminal zinc fingers that bind A/T-rich satellite DNA in vitro and in vivo.

    Evidence Deletion/mutation localization analysis, recombinant DNA-binding assay, satellite-DNA ChIP

    PMID:17295837

    Open questions at the time
    • Genome-wide euchromatic targets not defined here
    • Functional role of satellite binding unclear
  11. 2007 High

    A native target and a regulatory switch were defined: Sall1 represses Gbx2 via NuRD, and PKC phosphorylation of the motif disrupts NuRD recruitment, linking signaling to repression in vivo.

    Evidence Xenopus microinjection, reporter assays, in vitro PKC phosphorylation, phosphomimetic mutagenesis

    PMID:17895244

    Open questions at the time
    • Physiological stimuli triggering PKC phosphorylation unidentified
    • Breadth of NuRD-dependent targets unknown
  12. 2009 Medium

    A regulatory feedback was revealed: SALL4 represses SALL1 by recruiting NuRD to the SALL1 promoter, embedding SALL1 in a Sall-family cross-regulatory network.

    Evidence Mass spectrometry, ChIP at SALL1 promoter, qRT-PCR, HDAC assay, transgenic mice

    PMID:19440552

    Open questions at the time
    • Single lab
    • Physiological context of SALL4-SALL1 repression not established in vivo
  13. 2009 Medium

    An activating role in vascular biology was shown, with SALL1 transcriptionally inducing VEGF-A to drive angiogenesis, and truncated SALL1 failing to do so.

    Evidence Gene transfer angiogenesis assay, VEGF-A promoter reporter, qRT-PCR/ELISA, neutralizing antibody

    PMID:19942929

    Open questions at the time
    • Direct SALL1 binding at VEGF-A promoter not mapped
    • Single lab
  14. 2010 High

    Wnt-pathway relationships were dissected: early work showed Sall1 enhances canonical Wnt signaling dependent on heterochromatin localization, while genetic epistasis placed Sall1 upstream of Wnt9b/β-catenin at the ureteric bud tip.

    Evidence Wnt reporter/RNAi/localization; mouse genetic epistasis with β-catenin rescue and Wnt9b phenocopy

    PMID:15158448 PMID:20702564

    Open questions at the time
    • Direct transcriptional targets linking Sall1 to Wnt9b regulation not identified
    • Mechanism connecting heterochromatin localization to Wnt enhancement remains indirect
  15. 2010 Medium

    A pluripotency role was identified, showing Sall1 physically associates with Nanog and Sox2 and co-occupies Nanog target loci genome-wide in ES cells.

    Evidence Co-IP, ChIP-seq, overexpression/differentiation assays

    PMID:21062744

    Open questions at the time
    • Single lab
    • Whether Sall1 is required (vs sufficient) for pluripotency maintenance not resolved
  16. 2014 High

    The dual repressor/activator nature of Sall1 in nephron progenitors was established, with co-occupancy and physical interaction with Six2 and DNA-binding-independent repression at key differentiation loci.

    Evidence Conditional/inducible KO, ChIP-seq, Co-IP with Six2

    PMID:24550112 PMID:24744442

    Open questions at the time
    • Mechanism of DNA-binding-independent repression unresolved
    • How activator vs repressor mode is selected at each locus unclear
  17. 2015 Medium

    A non-cell-autonomous function was uncovered, showing stromal Sall1 restricts nephron progenitor expansion through regulation of Decorin and Fat4.

    Evidence Foxd1-Cre conditional KO, ChIP at target loci, expression analysis

    PMID:26511275

    Open questions at the time
    • Single lab
    • Direct vs indirect regulation of secreted signals not fully separated
  18. 2016 High

    A distinct lineage role in the CNS was defined, establishing Sall1 as a microglia-restricted factor required to maintain resting tissue-macrophage identity and morphology.

    Evidence Inducible and Cx3cr1-Cre microglial KO, flow cytometry, expression profiling, bone marrow transplant

    PMID:27459098 PMID:27776109

    Open questions at the time
    • Direct genomic targets in microglia not yet mapped at this stage
    • Mechanism enforcing identity not defined
  19. 2016 Medium

    A stage-dependent role in cardiac progenitors was shown, where Sall1 levels switch between promoting and suppressing cardiomyogenic differentiation.

    Evidence Lineage tracing, gain/loss-of-function differentiation assays in CPCs

    PMID:26876450

    Open questions at the time
    • Molecular targets in CPCs unidentified
    • Single lab
  20. 2017 High

    The in vivo requirement of NuRD recruitment was isolated, showing the Sall1 repression motif is specifically needed for nephron progenitor differentiation timing and loop of Henle formation.

    Evidence ΔSRM knock-in mice, transcriptional profiling, segment-marker IHC

    PMID:28760814

    Open questions at the time
    • Genome-wide NuRD-dependent targets in progenitors not enumerated
    • Why loop of Henle is selectively affected unexplained
  21. 2018 Medium

    A tumor-suppressor function was established, with SALL1 recruiting NuRD to promote breast cancer cell senescence through p38/ERK/mTOR signaling.

    Evidence Gain/loss-of-function in cell lines, in vivo tumor models, Co-IP, pathway inhibitors

    PMID:29625565

    Open questions at the time
    • Single lab
    • Direct senescence target genes not defined
  22. 2018 Medium

    A non-transcriptional disease mechanism was identified, showing truncated SALL1 interacts with ciliogenesis regulators CCP110/CEP97 and perturbs cilia and SHH signaling in TBS models.

    Evidence BioID proximity proteomics, CRISPR model cells, cilia/SHH assays, patient fibroblasts

    PMID:29395072

    Open questions at the time
    • Single lab
    • Whether full-length SALL1 normally regulates cilia unclear
  23. 2020 Medium

    A chromatin-remodeling role in odontoblast commitment was shown, with SALL1 binding RUNX2 and modulating accessibility near Tgf-β2 and the Runx2 locus.

    Evidence RNA-seq, ATAC-seq, Co-IP, proximity ligation, siRNA knockdown

    PMID:33159702

    Open questions at the time
    • Single lab
    • Direct vs indirect chromatin effects not separated
  24. 2022 Medium

    An early microglial developmental role was defined, showing Sall1 drives the embryonic maturation transition marked by CD206 downregulation and ramification.

    Evidence Microglial conditional KO, CD206 immunofluorescence, morphology across stages

    PMID:35567352

    Open questions at the time
    • Direct transcriptional targets of the maturation program unidentified
    • Single lab
  25. 2023 High

    The microglial identity mechanism was resolved, showing reciprocal control where SMAD4 activates the Sall1 super-enhancer and SALL1 in turn directs SMAD4 to microglia-specific enhancers while blocking inappropriate ones.

    Evidence SALL1 and SMAD4 ChIP-seq in enhancer-KO mice, super-enhancer mapping

    PMID:37322178

    Open questions at the time
    • Whether NuRD mediates the SMAD4 redistribution not tested
    • Structural basis of SALL1-SMAD4 cooperation unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SALL1 selects between transcriptional activation and NuRD-dependent repression at individual loci, and how its DNA-binding-independent repression operates, remain unresolved across its developmental and immune contexts.
  • No unified model for activator-vs-repressor mode selection
  • Mechanism of DNA-binding-independent repression undefined
  • Structural basis of partner heterodimerization unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 4 GO:0003677 DNA binding 1 GO:0140096 catalytic activity, acting on a protein 1
Localization
GO:0000228 nuclear chromosome 2 GO:0005634 nucleus 2 GO:0005654 nucleoplasm 2
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-162582 Signal Transduction 2 R-HSA-168256 Immune System 2 R-HSA-4839726 Chromatin organization 2
Partners
HDAC1HDAC2MTA1MTA2RUNX2SIX2SMAD4UBE2I
Complex memberships
NuRD complex

Evidence

Reading pass · 29 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1998 SALL1 (also known as HSAL1) encodes a putative C2H2 zinc-finger transcription factor; heterozygous loss-of-function mutations predicted to remove all zinc-finger DNA-binding domains cause Townes-Brocks syndrome, establishing SALL1 as a developmental transcription factor required for normal organogenesis. Genetic sequencing of TBS families; predicted protein truncation analysis Nature genetics Medium 9425907
2001 Mouse Sall1 is essential for ureteric bud invasion into the metanephric mesenchyme; homozygous Sall1 deletion results in incomplete ureteric bud outgrowth, failure of tubule formation, and mesenchyme apoptosis, while the mesenchyme retains competence for epithelial differentiation, indicating Sall1 is required for the inductive signaling step rather than downstream differentiation. Targeted gene knockout in mice; histological and in situ hybridization analysis Development (Cambridge, England) High 11688560
2001 SALL1 protein localizes to chromocenters (pericentromeric heterochromatin) and smaller heterochromatin foci in mammalian cells; it partially co-localizes with HP1/M31; it acts as a strong transcriptional repressor in mammalian cells; and it interacts with PIN2/TRF1 (a telomere-repeat-binding factor) via its non-N-terminal domains, as demonstrated by yeast two-hybrid and GST-pulldown. GFP-fusion live/epifluorescence microscopy; transcriptional reporter assay; yeast two-hybrid screen; GST pulldown Human molecular genetics High 11751684
2002 The N-terminus of mouse Sall1 is sufficient for potent transcriptional repression (>100-fold) and physically interacts with HDAC1, HDAC2, RbAp46/48, MTA-1, and MTA-2 (components of HDAC/chromatin remodeling complexes); HDAC inhibitor trichostatin A partially relieves repression (~3-fold); Sall1 is localized to discrete nuclear foci dependent on the N-terminal repression domain. Luciferase reporter transcriptional repression assay; co-immunoprecipitation with HDAC complex components; deletion analysis; TSA treatment; fluorescence microscopy The Journal of biological chemistry High 11836251
2002 SALL1 interacts with UBE2I (the SUMO E2-conjugating enzyme, human UBC9 homolog) and SUMO-1; SALL1 is covalently modified by at least two SUMO-1 molecules in vitro in the presence of UBA2/AOS1 and UBE2I; mutation of lysine 1086 to arginine abolishes sumoylation, identifying K1086 as the primary SUMO acceptor site. Yeast two-hybrid; GST pulldown; in vitro sumoylation assay; site-directed mutagenesis Biochemical and biophysical research communications High 12200128
2003 A truncated Sall1 protein (lacking zinc fingers 2–10 but retaining the N-terminal repression domain) acts as a dominant-negative or gain-of-function mutant: heterozygous mice expressing truncated Sall1 recapitulate human TBS (hearing loss, renal cystic hypoplasia, wrist bone abnormalities), while Sall1-null mice do not; truncated Sall1 physically interacts with all Sall family members and can mislocalize them. Knock-in mouse model expressing truncated Sall1; co-immunoprecipitation; phenotypic comparison with null allele Human molecular genetics High 12915476
2004 Sall1 synergistically activates canonical Wnt signaling; this activity depends on its localization to pericentromeric heterochromatin (punctate nuclear foci) but not on direct association with β-catenin; RNAi knockdown of Sall1 reduces Wnt reporter activity; N-terminally truncated Sall1 (as found in TBS) disrupts normal Sall1 heterochromatin localization and reduces Wnt signal enhancement. Luciferase Wnt reporter assay; RNAi knockdown; subcellular localization by fluorescence microscopy; co-immunoprecipitation for β-catenin interaction Biochemical and biophysical research communications Medium 15158448
2006 A conserved 12-amino acid motif (RRKQXK-PXXF) in the N-terminus of Sall1 is sufficient to recruit the NuRD (nucleosome remodeling and deacetylase) corepressor complex; endogenous Sall1-NuRD complexes possess HDAC activity; single amino acid substitutions in the motif abolish NuRD binding; the same motif is present in all Sall family members and in Ebfaz, suggesting a general NuRD-recruitment mechanism. Co-immunoprecipitation of endogenous Sall1-NuRD; HDAC activity assay; single amino acid mutagenesis; peptide-based recruitment assay The Journal of biological chemistry High 16707490
2006 The human SIX1 homeodomain transcription factor directly binds to the SALL1 promoter and transcriptionally activates SALL1 expression during kidney development; co-expression of SIX1 and Eya1 synergistically activates the SALL1 promoter; deletion of the SIX1 binding element significantly reduces promoter responsiveness. Luciferase reporter assay; electrophoretic mobility shift assay (EMSA); chromatin immunoprecipitation; transient transfection The Journal of biological chemistry Medium 16670092
2006 Sall4 and Sall1 form heterodimers; a truncated Sall1 (as produced by TBS mutations) causes mislocalization of Sall4 to heterochromatin, providing a mechanism by which SALL1 truncations can inhibit SALL4 function and potentially explain some TBS symptoms via SALL4 inhibition. Co-immunoprecipitation; fluorescence microscopy of localization; compound Sall4/Sall1 heterozygous mouse phenotyping Development (Cambridge, England) Medium 16790473
2007 Sall1 heterochromatin localization is mediated by its C-terminal double zinc finger motifs (7th–10th); a recombinant protein of the most C-terminal double zinc finger (9th–10th) binds specifically to A/T-rich sequences in vitro; Sall1 associates with A/T-rich sequences of major satellite DNA in pericentromeric heterochromatin in vivo. Deletion/mutation analysis of localization by fluorescence microscopy; recombinant protein DNA-binding assay; chromatin immunoprecipitation with major satellite DNA Genes to cells : devoted to molecular & cellular mechanisms High 17295837
2007 Sall1 directly represses the endogenous target gene Gbx2 in a NuRD-dependent fashion; the Sall1 repression motif is required for this in vivo function; protein kinase C phosphorylates serine 2 of the Sall1 repression motif, and a phosphomimetic mutation at this site disrupts NuRD recruitment and Gbx2 repression in cell culture and Xenopus embryos. Xenopus embryo microinjection with Sall1 mutants; luciferase reporter assay; in vitro PKC phosphorylation assay; phosphomimetic mutagenesis The Journal of biological chemistry High 17895244
2009 SALL4 represses transcription of SALL1 through recruitment of the Mi-2/NuRD complex; SALL4 immunocomplexes possess HDAC activity; SALL4 binding sites at the SALL1 promoter are co-occupied by NuRD components; SALL4 overexpression decreases SALL1 mRNA levels in 293T cells. Tandem mass spectrometry identification of SALL4-associated proteins; chromatin immunoprecipitation at SALL1 promoter; qRT-PCR; HDAC activity assay; SALL4 transgenic mouse model PloS one Medium 19440552
2009 SALL1 (Sall1) gene transfer induces angiogenesis via transcriptional activation of VEGF-A; Sall1 overexpression increases VEGF-A mRNA and protein levels, and increases VEGF-A promoter activity; neovascularization induced by Sall1 in mouse embryoid bodies is abolished by anti-VEGF antibody; truncated Sall1 does not activate the VEGF-A promoter. Gene transfer in cornea/embryoid body; VEGF-A promoter-luciferase reporter assay; qRT-PCR; ELISA; neutralizing antibody experiment Hypertension research : official journal of the Japanese Society of Hypertension Medium 19942929
2010 Sall1 in the metanephric mesenchyme controls ureteric bud tip Wnt patterning: in Sall1 mutants, the stalk marker Wnt9b and β-catenin target Axin2 are ectopically expressed in ureteric bud tips; ureteric bud arrest is rescued by reducing β-catenin levels; ectopic Wnt9b overexpression in the ureteric bud phenocopies the branching defect, placing Sall1 upstream of canonical Wnt signaling at the bud tip. Genetic epistasis in mice; compound mutant rescue by β-catenin heterozygosity; transgenic Wnt9b overexpression; in situ hybridization for marker genes Development (Cambridge, England) High 20702564
2010 Sall1 physically interacts with Nanog and Sox2 in embryonic stem cells; genome-wide ChIP-seq identifies 591 Sall1-bound loci, 80% of which are also Nanog targets; Sall1 positively regulates and synergizes with Nanog for gene transcription; Sall1 overexpression suppresses ectodermal and mesodermal differentiation markers during embryoid body formation. Co-immunoprecipitation; ChIP-seq; overexpression and differentiation assays in ES cells and embryoid bodies The Journal of biological chemistry Medium 21062744
2014 Sall1 acts as both a transcriptional activator and repressor in nephron progenitors: it activates progenitor-specific genes and represses differentiation genes; Sall1 co-occupies many progenitor gene loci together with Six2 and physically binds Six2; however, Sall1 does not bind the Wnt4 locus repressed by Six2, and Sall1-mediated repression is independent of DNA binding at those loci. Conditional Sall1 knockout in Six2+ progenitors; inducible Sall1 deletion; ChIP-seq; co-immunoprecipitation with Six2 Journal of the American Society of Nephrology : JASN High 24744442
2014 Sall1 maintains nephron progenitor stemness by restraining premature differentiation into renal vesicles; Sall1-mutant progenitors show reduced progenitor gene expression and amplified differentiation gene expression, with ectopic differentiation and depletion of Six2+Cited1+ cap mesenchyme. Conditional Sall1 knockout; transcriptional profiling; immunofluorescence for progenitor markers Development (Cambridge, England) High 24550112
2015 Sall1 in renal stromal progenitors non-cell-autonomously restricts expansion of nephron progenitors; Sall1 deletion in Foxd1+ stromal cells causes aberrant nephron progenitor expansion and cystic kidneys; Sall1 protein binds to gene loci including Decorin and Fat4 in stroma, and Decorin (which inhibits BMP-mediated nephron differentiation) is upregulated while Fat4 expression is reduced in mutant stroma. Stromal-specific conditional Sall1 knockout (Foxd1-Cre); ChIP for Decorin and Fat4 loci; gene expression analysis Scientific reports Medium 26511275
2016 Sall1 is required for maintaining microglia as resting tissue macrophages; inducible inactivation of Sall1 in vivo converts microglia into inflammatory phagocytes, alters neurogenesis, and disturbs tissue homeostasis; Sall1 is expressed exclusively by microglia and not by other mononuclear phagocytes or CNS-resident cells. Microglia-specific inducible Sall1 knockout mice; flow cytometry; gene expression profiling; neurogenesis assays Nature immunology High 27776109
2016 Sall1 regulates microglial morphology cell-autonomously; Sall1-deficient microglia shift from ramified to amoeboid morphology in developing retina; this morphological defect is not rescued by wild-type non-microglial cells. Conditional Sall1 knockout (Cx3cr1-Cre); bone marrow transplantation; fluorescence microscopy of microglial morphology Glia Medium 27459098
2016 Sall1 is expressed in undifferentiated cardiac progenitor cells (CPCs) giving rise to both ventricles; high Sall1 levels at mesodermal stages enhance cardiomyogenesis, while continued expression suppresses cardiac differentiation, demonstrating a stage-dependent role in regulating CPC fate. Sall1 lineage tracing; in vitro overexpression and loss-of-function in CPCs; differentiation assays Journal of molecular and cellular cardiology Medium 26876450
2017 Sall1 interaction with the NuRD complex (via the Sall1 repression motif, SRM) is required for normal renal progenitor differentiation and loop of Henle formation; disruption of Sall1-NuRD in knock-in mice (ΔSRM) causes accelerated nephron progenitor differentiation, bilateral renal hypoplasia, and specific loss of loop of Henle/distal tubule gene expression. Sall1 ΔSRM knock-in mice; transcriptional profiling; immunohistochemistry for nephron segment markers Development (Cambridge, England) High 28760814
2018 SALL1 functions as a tumor suppressor in breast cancer by recruiting the NuRD complex, which promotes cancer cell senescence; this tumor suppressive function involves the p38 MAPK, ERK1/2, and mTOR signaling pathways; SALL1 knockdown promotes cancer cell growth, proliferation, and colony formation. Gain- and loss-of-function in breast cancer cell lines; in vivo breast tumor models; Co-IP for NuRD recruitment; pathway inhibitor assays Molecular cancer Medium 29625565
2018 Truncated SALL1 (as produced by TBS mutations) interacts with cilia-related factors CCP110 and CEP97 (negative regulators of ciliogenesis) via proximity proteomics; TBS-derived fibroblasts and CRISPR-generated TBS model cells show more frequent cilia formation, altered cilia length and disassembly rates, and aberrant SHH signaling. Proximity proteomics (BioID) with truncated SALL1; CRISPR/Cas9-generated model cell line; cilia formation/length assay; SHH signaling reporter assay; TBS patient fibroblasts American journal of human genetics Medium 29395072
2020 SALL1 directly regulates commitment of odontoblast lineages by physically interacting with RUNX2 and remodeling open chromatin regions near Tgf-β2 and within the Runx2 locus; Sall1 knockdown inhibits odontoblastic differentiation and decreases chromatin accessibility at odontoblast lineage-related loci. RNA-seq; ATAC-seq; co-immunoprecipitation; proximity ligation assay; siRNA knockdown Stem cells (Dayton, Ohio) Medium 33159702
2022 SALL1 is required for the early developmental transition of embryonic microglia; microglial-specific Sall1 deletion in mice results in prolonged expression of CD206 (normally downregulated between E12.5 and E13.5) and persistence of less-ramified morphology into postnatal stages, establishing SALL1 as a transcriptional regulator of early microglial maturation. Microglial-specific conditional Sall1 knockout; immunofluorescence for CD206 and morphological analysis across developmental stages Glia Medium 35567352
2023 SALL1 enforces microglia-specific functions of the TGFβ-SMAD4 signaling axis: SMAD4 directly binds the Sall1 super-enhancer and is required for Sall1 expression in microglia; in turn, SALL1 promotes SMAD4 binding at microglia-specific enhancers while simultaneously suppressing SMAD4 binding at enhancers of genes inappropriately activated in Sall1 enhancer-KO microglia. SALL1 ChIP-seq; Sall1 enhancer knockout mice; SMAD4 ChIP-seq in wild-type and mutant microglia; super-enhancer mapping Nature immunology High 37322178
2006 SALL1 contains two repression domains: one at the extreme N-terminus and one in the central region; SALL1 fragments containing the central repression domain localize to pericentromeric heterochromatin foci in NIH-3T3 cells, suggesting a link between the central repression domain and heterochromatin association. Deletion mapping with transcriptional reporter assay; fluorescence microscopy of GFP-SALL1 fragments in transfected cells Biochimica et biophysica acta Medium 16443351

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 Sall1 is a transcriptional regulator defining microglia identity and function. Nature immunology 457 27776109
1998 Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nature genetics 362 9425907
2001 Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development (Cambridge, England) 286 11688560
2006 The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Development (Cambridge, England) 220 16790473
2009 Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex. PloS one 143 19440552
1999 Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. American journal of human genetics 143 9973281
2006 A conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complex. The Journal of biological chemistry 119 16707490
2014 Utility of the trabecular bone score (TBS) in secondary osteoporosis. Endocrine 117 24853880
2003 Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Human molecular genetics 106 12915476
2019 Generation of pluripotent stem cell-derived mouse kidneys in Sall1-targeted anephric rats. Nature communications 91 30723213
2013 Characteristics of TBS-extractable hyperphosphorylated tau species: aggregation intermediates in rTg4510 mouse brain. Journal of Alzheimer's disease : JAD 89 22941973
2001 SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. Human molecular genetics 77 11751684
2021 Hybrid AI-assistive diagnostic model permits rapid TBS classification of cervical liquid-based thin-layer cell smears. Nature communications 71 34112790
2002 Murine Sall1 represses transcription by recruiting a histone deacetylase complex. The Journal of biological chemistry 69 11836251
1999 GABAB receptor antagonism: facilitatory effects on memory parallel those on LTP induced by TBS but not HFS. The Journal of neuroscience : the official journal of the Society for Neuroscience 69 10341258
2014 Sall1 maintains nephron progenitors and nascent nephrons by acting as both an activator and a repressor. Journal of the American Society of Nephrology : JASN 67 24744442
2001 Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. Mechanisms of development 63 11404093
1999 Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. Human mutation 61 10533063
2023 SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity. Nature immunology 60 37322178
2019 Expression of Tmem119/Sall1 and Ccr2/CD69 in FACS-Sorted Microglia- and Monocyte/Macrophage-Enriched Cell Populations After Intracerebral Hemorrhage. Frontiers in cellular neuroscience 58 30687011
2000 SALL1 mutations in Townes-Brocks syndrome and related disorders. Human mutation 56 11102974
2010 Sall1 regulates embryonic stem cell differentiation in association with nanog. The Journal of biological chemistry 55 21062744
2008 Sall1, sall2, and sall4 are required for neural tube closure in mice. The American journal of pathology 55 18818376
2016 The Superior Temporal Sulcus Is Causally Connected to the Amygdala: A Combined TBS-fMRI Study. The Journal of neuroscience : the official journal of the Society for Neuroscience 54 28011742
2005 SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Human mutation 53 16088922
2004 Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. Biochemical and biophysical research communications 53 15158448
2014 Sall1 balances self-renewal and differentiation of renal progenitor cells. Development (Cambridge, England) 52 24550112
2018 SALL1 functions as a tumor suppressor in breast cancer by regulating cancer cell senescence and metastasis through the NuRD complex. Molecular cancer 51 29625565
2013 The effect of functionalizing lipid nanocapsules with NFL-TBS.40-63 peptide on their uptake by glioblastoma cells. Biomaterials 50 23391494
2018 Dickkopf-1 (Dkk-1) serum levels in systemic sclerosis and rheumatoid arthritis patients: correlation with the Trabecular Bone Score (TBS). Clinical rheumatology 49 30291470
2007 Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains. Genes to cells : devoted to molecular & cellular mechanisms 46 17295837
2011 Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. Disease models & mechanisms 45 22228756
2007 Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Human mutation 45 17221874
2025 Monocytes can efficiently replace all brain macrophages and fetal liver monocytes can generate bona fide SALL1+ microglia. Immunity 43 40311613
2016 Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina. Glia 43 27459098
2013 Effects of Exemestane and Tamoxifen treatment on bone texture analysis assessed by TBS in comparison with bone mineral density assessed by DXA in women with breast cancer. Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry 43 23562130
2010 A mouse line expressing Sall1-driven inducible Cre recombinase in the kidney mesenchyme. Genesis (New York, N.Y. : 2000) 42 20127799
2024 Harnessing Brain Plasticity: The Therapeutic Power of Repetitive Transcranial Magnetic Stimulation (rTMS) and Theta Burst Stimulation (TBS) in Neurotransmitter Modulation, Receptor Dynamics, and Neuroimaging for Neurological Innovations. Biomedicines 39 39595072
2006 Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Human mutation 38 16429401
2006 Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. The Journal of biological chemistry 38 16670092
2007 A phosphomimetic mutation in the Sall1 repression motif disrupts recruitment of the nucleosome remodeling and deacetylase complex and repression of Gbx2. The Journal of biological chemistry 37 17895244
2010 Sall1-dependent signals affect Wnt signaling and ureter tip fate to initiate kidney development. Development (Cambridge, England) 36 20702564
2007 Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. American journal of medical genetics. Part A 36 18000979
2005 Essential roles of Sall1 in kidney development. Kidney international 35 16221172
2001 The zinc finger domain of Tzfp binds to the tbs motif located at the upstream flanking region of the Aie1 (aurora-C) kinase gene. The Journal of biological chemistry 35 11279021
2000 Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. Cytogenetics and cell genetics 35 10965108
2018 Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. American journal of human genetics 34 29395072
2013 An in vivo RNAi screen identifies SALL1 as a tumor suppressor in human breast cancer with a role in CDH1 regulation. Oncogene 34 24292671
2000 Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. Pediatric nephrology (Berlin, Germany) 31 10654325
2001 Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. American journal of medical genetics 30 11484202
2015 Sall1 in renal stromal progenitors non-cell autonomously restricts the excessive expansion of nephron progenitors. Scientific reports 27 26511275
2013 The NFL-TBS.40-63 anti-glioblastoma peptide enters selectively in glioma cells by endocytosis. International journal of pharmaceutics 27 23603097
2012 Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. American journal of medical genetics. Part A 27 22308078
2001 Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genetics in medicine : official journal of the American College of Medical Genetics 27 11478532
2006 Defining the heterochromatin localization and repression domains of SALL1. Biochimica et biophysica acta 26 16443351
2016 Sall1 transiently marks undifferentiated heart precursors and regulates their fate. Journal of molecular and cellular cardiology 23 26876450
2002 SALL1 expression in the human pituitary-adrenal/gonadal axis. The Journal of endocrinology 23 12065233
2018 HAM-TBS: high-accuracy methylation measurements via targeted bisulfite sequencing. Epigenetics & chromatin 22 29973294
2017 A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation. Development (Cambridge, England) 22 28760814
2012 Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. The Journal of pediatrics 21 23069192
2012 Structure-function analysis of the glioma targeting NFL-TBS.40-63 peptide corresponding to the tubulin-binding site on the light neurofilament subunit. PloS one 20 23152907
2007 Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. American journal of medical genetics. Part A 20 17431915
2020 SALL1 regulates commitment of odontoblast lineages by interacting with RUNX2 to remodel open chromatin regions. Stem cells (Dayton, Ohio) 19 33159702
2011 The vimentin-tubulin binding site peptide (Vim-TBS.58-81) crosses the plasma membrane and enters the nuclei of human glioma cells. International journal of pharmaceutics 19 21575694
2002 Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1. Biochemical and biophysical research communications 18 12200128
2023 The use of liposomes functionalized with the NFL-TBS.40-63 peptide as a targeting agent to cross the in vitro blood-brain barrier and target glioblastoma cells. International journal of pharmaceutics 17 37722495
2022 Bone mineral density, vitamin D receptor (VDR) gene polymorphisms, fracture risk assessment (FRAX), and trabecular bone score (TBS) in rheumatoid arthritis patients: connecting pieces of the puzzle. Clinical rheumatology 17 35048212
2017 sall1 and sall4 repress pou5f3 family expression to allow neural patterning, differentiation, and morphogenesis in Xenopus laevis. Developmental biology 17 28322736
2007 Sall1 regulates mitral cell development and olfactory nerve extension in the developing olfactory bulb. Cerebral cortex (New York, N.Y. : 1991) 17 18024993
2022 LncRNA PART1 inhibits glioma proliferation and migration via miR-374b/SALL1 axis. Neurochemistry international 16 35490895
2022 The zinc finger transcription factor Sall1 is required for the early developmental transition of microglia in mouse embryos. Glia 16 35567352
2009 Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 16 19204018
2017 Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation. BMC medical genetics 15 29110636
2016 The Neurofilament-Derived Peptide NFL-TBS.40-63 Targets Neural Stem Cells and Affects Their Properties. Stem cells translational medicine 15 27177578
2020 Relationship between Insulin Resistance (HOMA-IR), Trabecular Bone Score (TBS), and Three-Dimensional Dual-Energy X-ray Absorptiometry (3D-DXA) in Non-Diabetic Postmenopausal Women. Journal of clinical medicine 14 32503328
2018 Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1). Calcified tissue international 14 30421324
2017 Re-expression of Sall1 in podocytes protects against adriamycin-induced nephrosis. Laboratory investigation; a journal of technical methods and pathology 13 28759006
2017 SALL1 expression in acute myeloid leukemia. Oncotarget 13 29484122
2009 The effect of a novel botanical agent TBS-101 on invasive prostate cancer in animal models. Anticancer research 13 19846929
2006 SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. American journal of medical genetics. Part A 13 16892410
2021 Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss. BMC medical genomics 11 33478437
2019 Anephrogenic phenotype induced by SALL1 gene knockout in pigs. Scientific reports 11 31142767
2011 Identification and characterization of Sall1-expressing cells present in the adult mouse kidney. Nephron. Experimental nephrology 11 21934330
2008 The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). Ophthalmic genetics 11 19005989
2014 The NFL-TBS.40-63 anti-glioblastoma peptide disrupts microtubule and mitochondrial networks in the T98G glioma cell line. PloS one 10 24896268
2009 Zinc-finger transcriptional factor Sall1 induces angiogenesis by activation of the gene for VEGF-A. Hypertension research : official journal of the Japanese Society of Hypertension 10 19942929
2022 Biological activity of gold nanoparticles combined with the NFL-TBS.40-63 peptide, or with other cell penetrating peptides, on rat glioblastoma cells. International journal of pharmaceutics: X 9 36164551
2021 Hsa_circ_0043265 Restrains Cell Proliferation, Migration and Invasion of Tongue Squamous Cell Carcinoma via Targeting the miR-1243/SALL1 Axis. Pathology oncology research : POR 9 34257535
2019 Sall1 plays pivotal roles for lens fiber cell differentiation in mouse. Biochemical and biophysical research communications 9 30929925
2019 The NFL-TBS.40-63 peptide targets and kills glioblastoma stem cells derived from human patients and also targets nanocapsules into these cells. International journal of pharmaceutics 9 31132447
2019 Effects of uninterrupted sinusoidal LF-EMF stimulation on LTP induced by different combinations of TBS/HFS at the Schaffer collateral-CA1 of synapses. Brain research 9 31580873
2018 Sall1 Regulates Microglial Morphology Cell Autonomously in the Developing Retina. Advances in experimental medicine and biology 9 29721946
2008 Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. Journal of pediatric surgery 9 18280297
2023 miR-4286 promotes prostate cancer progression by targeting the expression of SALL1. The journal of gene medicine 8 31693770
2023 SALL1 promotes proliferation and metastasis and activates phosphorylation of p65 and JUN in colorectal cancer cells. Pathology, research and practice 8 37741137
2022 Ultrasound microbubble-mediated miR-503-5p downregulation suppressed in vitro CRC progression via promoting SALL1 expression. Tissue & cell 8 35567907
2022 Characterization and quantification of the interaction between the NFL-TBS.40-63 peptide and lipid nanocapsules. International journal of pharmaceutics: X 8 36177093
2021 Effect of the NFL-TBS.40-63 peptide on canine glioblastoma cells. International journal of pharmaceutics 8 34144141
2015 Neurofilaments and NFL-TBS.40-63 peptide penetrate oligodendrocytes through clathrin-dependent endocytosis to promote their growth and survival in vitro. Neuroscience 8 25862585
1999 Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2. Cytogenetics and cell genetics 8 10343095

Missed literature

Know a paper Affinage missed for SALL1? Flag it for the maintainers and the community.

No submissions yet.