Universität zu Köln

Otto, Moritz ORCID: 0000-0001-5407-373X, Zheng, Yichen ORCID: 0000-0001-7998-0272, Grablowitz, Paul and Wiehe, Thomas ORCID: 0000-0002-8932-2772 (2024). Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion. Human Genome Variation, 11 (1). pp. 1-10. Springer Nature. ISSN 2054-345X

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Abstract

[Artikel-Nr.: 37] Genes with multiple copies are likely to be maintained by stabilizing selection, which puts a bound to unlimited expansion of copy number. We designed a model in which copy number variation is generated by unequal recombination, which fits well with several genes surveyed in three human populations. Based on this theoretical model and computer simulations, we were interested in determining whether the gene copy number distribution in the derived European and Asian populations can be explained by a purely demographic scenario or whether shifts in the distribution are signatures of adaptation. Although the copy number distribution in most of the analyzed gene clusters can be explained by a bottleneck, such as in the out-of-Africa expansion of Homo sapiens 60–10 kyrs ago, we identified several candidate genes, such as AMY1A and PGA3, whose copy numbers are likely to differ among African, Asian, and European populations.

Item Type:	Article
Creators:	Creators Email ORCID ORCID Put Code Otto, Moritz UNSPECIFIED https://orcid.org/0000-0001-5407-373X UNSPECIFIED Zheng, Yichen UNSPECIFIED https://orcid.org/0000-0001-7998-0272 UNSPECIFIED Grablowitz, Paul UNSPECIFIED UNSPECIFIED UNSPECIFIED Wiehe, Thomas UNSPECIFIED https://orcid.org/0000-0002-8932-2772 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-814648
Identification Number:	10.1038/s41439-024-00293-w
Journal or Publication Title:	Human Genome Variation
Volume:	11
Number:	1
Page Range:	pp. 1-10
Number of Pages:	10
Date:	23 September 2024
Publisher:	Springer Nature
ISSN:	2054-345X
Language:	English
Faculty:	Faculty of Mathematics and Natural Sciences
Divisions:	Faculty of Mathematics and Natural Sciences > Department of Biology > Institute for Genetics
Subjects:	Life sciences
['eprint_fieldname_oa_funders' not defined]:	Publikationsfonds UzK
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/81464