Article

A human supergene: <i>BRCA1, CCDC200</i> , and U2 snRNAs

2025-11-10

Abstract excerpt

BRCA1 occurs on one of two major haplotypes in populations of European and Asian ancestry that show signs of selection and functional differences. Near-maximal linkage disequilibrium associated with these haplotypes extends for more than 300 kilobases from RND2 to RNU2 . There is greater haplotypic diversity in populations from Africa, with the majority haplotype in Europe and Asia a minority haplotype in Africa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 36029851-b03f-5116-8598-29f6a394ebf9
DOI: 10.1101/2025.11.08.687349

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A human supergene: <i>BRCA1, CCDC200</i> , and U2 snRNAsDOI 10.1101/2025.11.08.687349Read

Structural variants at the <i>BRCA1/2</i> loci are a common source of homologous repair deficiency in high grade serous ovarian carcinomaSemantic proximity Read

Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.Semantic proximity Read

A classical revival: Human satellite DNAs enter the genomics eraSemantic proximity Read

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.Semantic proximity Read

<i>UBA1-CDK16</i> : A Sex-Specific Chimeric RNA and Its Role in Immune Sexual DimorphismSemantic proximity Read

<i>DGCR8</i> haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defectsSemantic proximity Read

Independent expansion, selection and hypervariability of the <i>TBC1D3</i> gene family in humansSemantic proximity Read

Molecular indexing of human genomic DNA.Semantic proximity Read

BRCA1 Is Associated with a Human SWI/SNF-Related ComplexSemantic proximity Read

Analysis of R-loop forming regions identifies<i>RNU2-2P</i>and<i>RNU5B-1</i>as neurodevelopmental disorder genesSemantic proximity Read

Comprehensive RAD51C ovarian cancer variant analysis uncouples homologous recombination and replicative functions.Semantic proximity Read

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.Semantic proximity Read