Structural polymorphism and diversity of human segmental duplications
Structural polymorphism and diversity of human segmental duplications
ABSTRACT Segmental duplications (SDs) contribute significantly to human disease, evolution, and diversity yet have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies where the majority of SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms, we identify 173.2 Mbp of duplicated sequence (47.4 Mbp 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 number when compared to non-African samples. A comparison to a resource of 563 million full-length Iso-Seq reads identifies 201 novel, potentially protein-coding genes corresponding to these copy number polymorphic SDs.
Lee Charles、Jeong Hyeonsoo、Yoo DongAhn、Garcia Gage H.、Hallast Pille、Pastinen Tomi、Lewis Alexandra P.、Human Genome Structural Variation Consortium (HGSVC)、Yilmaz Feyza、Munson Katherine M.、Kordosky Jennifer、Harvey William T.、Eichler Evan E.、Dishuck Philip C.
The Jackson Laboratory for Genomic MedicineDepartment of Genome Sciences, University of Washington School of Medicine||Altos LabsDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Genome Sciences, University of Washington School of MedicineThe Jackson Laboratory for Genomic MedicineChildren?ˉs Mercy Hospital and University of Missouri-Kansas City School of MedicineDepartment of Genome Sciences, University of Washington School of MedicineThe Jackson Laboratory for Genomic MedicineDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Genome Sciences, University of Washington School of Medicine||Howard Hughes Medical Institute, University of WashingtonDepartment of Genome Sciences, University of Washington School of Medicine
遗传学分子生物学生物科学现状、生物科学发展
Lee Charles,Jeong Hyeonsoo,Yoo DongAhn,Garcia Gage H.,Hallast Pille,Pastinen Tomi,Lewis Alexandra P.,Human Genome Structural Variation Consortium (HGSVC),Yilmaz Feyza,Munson Katherine M.,Kordosky Jennifer,Harvey William T.,Eichler Evan E.,Dishuck Philip C..Structural polymorphism and diversity of human segmental duplications[EB/OL].(2025-03-28)[2025-08-02].https://www.biorxiv.org/content/10.1101/2024.06.04.597452.点此复制
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