Structural polymorphism and diversity of human segmental duplications

被引：3

作者：

Jeong, Hyeonsoo ^{[1
,2
]}

Dishuck, Philip C. ^{[1
]}

Yoo, Dongahn ^{[1
]}

Harvey, William T. ^{[1
]}

Munson, Katherine M. ^{[1
]}

Lewis, Alexandra P. ^{[1
]}

Kordosky, Jennifer ^{[1
]}

Garcia, Gage H. ^{[1
]}

Human Genome Struct Variation Consortium HGSVC, Feyza

Yilmaz, Feyza ^{[3
]}

Hallast, Pille ^{[3
]}

Lee, Charles ^{[3
]}

Pastinen, Tomi ^{[4
,5
]}

Eichler, Evan E. ^{[1
,6
]}

机构：

[1] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

[2] Altos Labs, San Diego, CA USA

[3] Jackson Lab Genom Med, Farmington, CT USA

[4] Childrens Mercy Hosp, Kansas City, MO USA

[5] Univ Missouri Kansas City, Sch Med, Kansas City, MO USA

[6] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA

来源：

NATURE GENETICS | 2025年 / 57卷 / 02期

基金：

美国国家卫生研究院;

关键词：

COPY-NUMBER VARIATION; GENE FAMILY; EVOLUTION; ASSOCIATION; RISK; DNA; MICRODELETION; RECOMBINATION; HAPLOTYPES; DISCOVERY;

D O I：

10.1038/s41588-024-02051-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies (from 85 samples representing 38 Africans and 47 non-Africans) in which the majority of autosomal SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms and sex chromosomes, we identify 173.2 Mb of duplicated sequence (47.4 Mb not present in the telomere-to-telomere reference) distinguishing fixed from structurally polymorphic events. We find that intrachromosomal SDs are among the most variable, with rare events mapping near their progenitor sequences. African genomes harbor significantly more intrachromosomal SDs and are more likely to have recently duplicated gene families with higher copy numbers than non-African samples. Comparison to a resource of 563 million full-length isoform sequencing reads identifies 201 novel, potentially protein-coding genes corresponding to these copy number polymorphic SDs.

引用

页码：390 / 401

页数：18

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