Evidence map›Paper›PMID 42151137›Full record

ArticleNature communications2026

Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes.

Samvardhini Sridharan, Runyang Nicolas Lou, Scott Ferguson, Joana L Rocha, Rishi De-Kayne, Matthew W Mitchell, Alison N Killilia, CAAPA PopGen Working Group, Brenna Henn, Peter H Sudmant

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Samvardhini SridharanDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, USA.
Runyang Nicolas LouDepartment of Integrative Biology, University of California, Berkeley, CA, USA.
Scott FergusonDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, USA.ORCID http://orcid.org/0000-0002-4821-7490
Joana L RochaDepartment of Integrative Biology, University of California, Berkeley, CA, USA.ORCID http://orcid.org/0000-0003-3266-6328
Rishi De-KayneDepartment of Integrative Biology, University of California, Berkeley, CA, USA.ORCID http://orcid.org/0000-0001-5569-8061
Matthew W MitchellCoriell Institute for Medical Research, Camden, NJ, 08103, USA.ORCID http://orcid.org/0000-0002-6947-0495
Alison N KilliliaDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, USA.ORCID http://orcid.org/0000-0002-8308-8196
CAAPA PopGen Working Group
Brenna HennDepartment of Anthropology, University of California, Davis, CA, USA.ORCID http://orcid.org/0000-0003-4998-287X
Peter H SudmantDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, USA. psudmant@berkeley.edu.ORCID http://orcid.org/0000-0002-9573-8248

Funding

New Approaches for Empowering Studies of Asthma in Populations of African DescentR01HL104608 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, KENNY, EIMEAR ELIZABETH · 2011 to 2022
$23.1M
The evolution and diversity of mutation, molecular fidelity, and genome structureR35GM142916 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI Peter Heshedahl Sudmant · 2021 to 2026
$2.5M
A compendium of complete primate reference genomes to facilitate conservation, genomics, and ecologyR01HG013017 · NHGRI · UNIVERSITY OF CALIFORNIA BERKELEY · PI Erik Garrison, Matthew William Mitchell · 2023 to 2026
$1.9M
NHGRI NIH HHS R01 HG013017NHLBI NIH HHS R01 HL104608NIGMS NIH HHS R35 GM142916U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R01HG013017U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) R35GM142916
6 · The paper itself

Abstract

The 17q21.31 locus in humans harbors several complex structural haplotypes including a ~ 970 kb inversion. Different inversion haplotypes have been associated with susceptibility to microdeletions causing Koolen-de Vries syndrome and variation in fecundity and recombination rates. Here, using 210 haplotype-resolved human genome assemblies and pangenome graph-based approaches we characterize 11 distinct structural haplotypes, several of which have not been previously described. Extending our analyses to a set of haplotype-resolved great-ape genomes, we characterize the structure of an independent inversion in chimpanzees which extends an additional 650 kb, encompasses 5 additional genes, and is ~2 million years younger than the human inversion. Using short read sequencing data we characterize 17q21.31 haplotype diversity worldwide in ~5174 individuals from 107 populations finding increased frequencies of KANSL1 duplication-containing haplotypes in both European and South Asian populations as well as 8 double recombination events between inverted and non-inverted haplotypes ranging in size from 20-180 kb. Finally, using 626 ancient Eurasian human genomes we show the frequency of haplotypes containing KANSL1 duplications has increased ~6-fold over the past 12 thousand years in Europe. Together, our results highlight the dynamics, complexity, and recurrent, independent evolution of a medically relevant locus across humans and great apes.

Indexed as

Chromosomes, Human, Pair 17HominidaeAnimalsChromosome InversionEvolution, MolecularGenome, HumanHaplotypesHumansPan troglodytesRecombination, Genetic

Identifiers

PMID42151137
PMCPMC13381761

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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.