Genomic structural variation: A complex but important driver of human evolution

Genomic structural variation: A complex but important driver of human evolution

Structural variants (SVs)—including duplications, deletions, and inversions of DNA—can have significant genomic and functional impacts but are technically difficult to identify and assay compared with single‐nucleotide variants. With the aid of new genomic technologies, it has become clear that SVs...

Full description

Saved in:
Bibliographic Details
Published in:American journal of biological anthropology Vol. 181; no. S76; pp. 118 - 144
Main Authors: Soto, Daniela C., Uribe‐Salazar, José M., Shew, Colin J., Sekar, Aarthi, McGinty, Sean P., Dennis, Megan Y.
Format: Journal Article
Language:English
Published: Hoboken, USA John Wiley & Sons, Inc 01-08-2023
Wiley Subscription Services, Inc
Subjects:
Animals
Biotechnology
brain
Deoxyribonucleic acid
DNA
Evolution
gene duplications
Genome
genomes
Genomic Structural Variation
Genomics
Hominidae - genetics
Hominids
Human evolution
Humans
Natural selection
Nucleotides
Primates
Primates - genetics
structural variation
Variants
genomes
structural variation
brain
human evolution
gene duplications
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Structural variants (SVs)—including duplications, deletions, and inversions of DNA—can have significant genomic and functional impacts but are technically difficult to identify and assay compared with single‐nucleotide variants. With the aid of new genomic technologies, it has become clear that SVs account for significant differences across and within species. This phenomenon is particularly well‐documented for humans and other primates due to the wealth of sequence data available. In great apes, SVs affect a larger number of nucleotides than single‐nucleotide variants, with many identified SVs exhibiting population and species specificity. In this review, we highlight the importance of SVs in human evolution by (1) how they have shaped great ape genomes resulting in sensitized regions associated with traits and diseases, (2) their impact on gene functions and regulation, which subsequently has played a role in natural selection, and (3) the role of gene duplications in human brain evolution. We further discuss how to incorporate SVs in research, including the strengths and limitations of various genomic approaches. Finally, we propose future considerations in integrating existing data and biospecimens with the ever‐expanding SV compendium propelled by biotechnology advancements.
Bibliography:Daniela C. Soto, José M. Uribe‐Salazar, and Colin J. Shew contributed equally to this work.
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
ObjectType-Review-3
content type line 23
These authors contributed equally to this work.
ISSN:2692-7691
2692-7691
DOI:10.1002/ajpa.24713