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Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.

Genetics - 4 Oct 2023

Chen Jingrong, Floyd Erin N, Dawson Dean S, Rankin Susannah

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a developmental disorder characterized by limb truncations, craniofacial abnormalities, and cognitive delays. CdLS is caused mainly by mutations in genes encoding subunits or regulators of the cohesin complex. Cohesin plays 2 distinct roles in chromosome dynamics as follows: it promotes looping, organization, and compaction of individual chromosomes, and it holds newly...

Topics

De Lange Syndrome
Chromosomal Proteins, Non-Histone
Cell Cycle Proteins
Mutation
Saccharomyces cerevisiae
Structural Maintenance of Chromosome Protein 1
Cohesins
Chromatids
Humans
DNA Damage
Saccharomyces cerevisiae Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitosis

Phenotype

Chromosome Segregation

Source

Open in PubMed Open full text

Identifiers

PMID: 37650609
DOI: 10.1093/genetics/iyad159
PMCID: PMC10550314

Genes

SMC1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.PMID 37650609Read ↗

Cornelia de Lange Syndrome-associated mutations in Smc1 cause both sister chromatid cohesion and cohesion-independent defectsSemantic proximity Read ↗

Cornelia de Lange syndrome, cohesin, and beyond.Semantic proximity Read ↗

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.Semantic proximity Read ↗

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Semantic proximity Read ↗

RAD21 mutations cause a human cohesinopathy.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

[Structural maintenance of chromosomes and associated genetic disorders].Semantic proximity Read ↗

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Semantic proximity Read ↗

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Semantic proximity Read ↗

Cohesin and human disease.Semantic proximity Read ↗

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