ArticleNature genetics2012
Structural haplotypes and recent evolution of the human 17q21.31 region.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 5 of them syntheses that pooled it.
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Who cites it
113 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Pooled it
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies.Nature genetics · 2022Pooled it
- Mapping the human genetic architecture of COVID-19.Nature · 2021Pooled it
- Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.Nature genetics · 2013Pooled it
- Article
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- Emerging directions in tauopathy research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Review
- Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome.Molecular psychiatry · 2026Article
- Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes.Nature communications · 2026Article
- Promoter mutagenesis and a massively parallel reporter screen of thebioRxiv : the preprint server for biology · 2026Article
- Characterizing the Pleiotropic Architecture of Impulsivity and Its Links to Psychopathology and Neurodevelopment.The American journal of psychiatry · 2026Article
- CNV-Finder: streamlining copy number variation discovery.Bioinformatics advances · 2026Article
- Neuroimaging-derived brain endophenotypes link molecular mechanisms to Alzheimer's disease and aging.medRxiv : the preprint server for health sciences · 2025Article
- Evolutionary hotspots of structural variation drive inter-individual differences in the expression of fusion transcripts in the human brain.Nucleic acids research · 2025Article
- Chr:17q21.31 locus risk haplotype H1 susceptibility to ferroptosis is mediated by endolysosomal pathway.Cell death & disease · 2025Article
- The same genomic variants in the first three exons ofGenes & diseases · 2025Article
- Exploring MAPT-containing H1 and H2 haplotypes in Parkinson's disease across diverse populations.medRxiv : the preprint server for health sciences · 2025Article
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes.bioRxiv : the preprint server for biology · 2025Article
53 more citing papers are in PubMed but not listed here.
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4 authors.
Funding
Abstract
Structurally complex genomic regions are not yet well understood. One such locus, human chromosome 17q21.31, contains a megabase-long inversion polymorphism, many uncharacterized copy-number variations (CNVs) and markers that associate with female fertility, female meiotic recombination and neurological disease. Additionally, the inverted H2 form of 17q21.31 seems to be positively selected in Europeans. We developed a population genetics approach to analyze complex genome structures and identified nine segregating structural forms of 17q21.31. Both the H1 and H2 forms of the 17q21.31 inversion polymorphism contain independently derived, partial duplications of the KANSL1 gene; these duplications, which produce novel KANSL1 transcripts, have both recently risen to high allele frequencies (26% and 19%) in Europeans. An older H2 form lacking such a duplication is present at low frequency in European and central African hunter-gatherer populations. We further show that complex genome structures can be analyzed by imputation from SNPs.
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