ArticleHuman molecular genetics2014
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 45 citations in OpenAlex.
- Article
- The tumor suppressor SALL2 opposes chemotherapeutic resistance in breast cancer.Molecular and cellular biochemistry · 2025Article
- Case report: A novel intronicFrontiers in genetics · 2025Article
- SALL2 regulates neural differentiation of mouse embryonic stem cells through Tuba1a.Cell death & disease · 2024Article
- Identification of novel genetic loci related to dromedary camel (Camelus dromedarius) morphometrics, biomechanics, and behavior by genome-wide association studies.BMC veterinary research · 2024Article
- Casein kinase 2 phosphorylates and induces the SALL2 tumor suppressor degradation in colon cancer cells.Cell death & disease · 2024Article
- Chromosome-scale genomes reveal genomic consequences of inbreeding in the South China tiger: A comparative study with the Amur tiger.Molecular ecology resources · 2023Article
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- The Sall2 transcription factor promotes cell migration regulating focal adhesion turnover and integrin β1 expression.Frontiers in cell and developmental biology · 2022Article
- SALL Proteins; Common and Antagonistic Roles in Cancer.Cancers · 2021Review
- The role of FOSL1 in stem-like cell reprogramming processes.Scientific reports · 2021Article
- Tamoxifen and oxidative stress: an overlooked connection.Discover oncology · 2021Review
- Accelerated differentiation of human pluripotent stem cells into neural lineages via an early intermediate ectoderm population.Stem cells (Dayton, Ohio) · 2020Article
- Conjunctival reconstruction via enrichment of human conjunctival epithelial stem cells by p75 through the NGF-p75-SALL2 signaling axis.Stem cells translational medicine · 2020Article
- Compound heterozygous splicing CDON variants result in isolated ocular coloboma.Clinical genetics · 2020Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Epigenetic silencing of SALL2 confers tamoxifen resistance in breast cancer.EMBO molecular medicine · 2019Article
- Looking to the future of zebrafish as a model to understand the genetic basis of eye disease.Human genetics · 2019Review
- An update on the genetics of ocular coloboma.Human genetics · 2019Review
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
Corrections and comments
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Authors and funding
18 authors at 8 institutions in 8 countries.
Funding
Abstract
Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably affecting the iris and retina. This mutation, c.85G>T, introduces a premature termination codon (p.Glu29*) predicted to truncate the SALL2 protein so that it lacks three clusters of zinc-finger motifs that are essential for DNA-binding activity. This discovery identifies SALL2 as the third member of the Drosophila homeotic Spalt-like family of developmental transcription factor genes implicated in human disease. SALL2 is expressed in the developing human retina at the time of, and subsequent to, optic fissure closure. Analysis of Sall2-deficient mouse embryos revealed delayed apposition of the optic fissure margins and the persistence of an anterior retinal coloboma phenotype after birth. Sall2-deficient embryos displayed correct posterior closure toward the optic nerve head, and upon contact of the fissure margins, dissolution of the basal lamina occurred and PAX2, known to be critical for this process, was expressed normally. Anterior closure was disrupted with the fissure margins failing to meet, or in some cases misaligning leading to a retinal lesion. These observations demonstrate, for the first time, a role for SALL2 in eye morphogenesis and that loss of function of the gene causes ocular coloboma in humans and mice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.