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Article

Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl+/- embryos.

Science advances - 2 Dec 2022

Kean Connor M, Tracy Christopher J, Mitra Apratim, Rahat Beenish, Van Winkle Matthew T, Gebert Claudia M, Noeker Jacob A, Calof Anne L, Lander Arthur D, Kassis Judith A, Pfeifer Karl

Abstract excerpt

Cohesin rings interact with DNA and modulate the expression of thousands of genes. NIPBL loads cohesin onto chromosomes, and WAPL takes it off. Haploinsufficiency for NIPBL causes a developmental disorder, Cornelia de Lange syndrome (CdLS), that is modeled by Nipbl+/- mice. Mutations in WAPL have not been shown to cause disease or gene expression changes in mammals. Here, we show dysregulation of >1000 genes in...

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Identifiers

PMID: 36449618
DOI: 10.1126/sciadv.add4136
PMCID: PMC9710879

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl+/- embryos.PMID 36449618Read ↗

Decreasing <i>Wapl</i> dosage partially corrects transcriptome phenotypes in <i>Nipbl</i> -/+ embryonic mouse brainSemantic proximity Read ↗

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Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin.Semantic proximity Read ↗

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Clinical, <i>in vitro,</i> and <i>in vivo</i> evidence of <i>WAPL</i> as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorderSemantic proximity Read ↗

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