Biology Faculty Articles

Title

Examination of Disease-Based Selection, Demographic History and Population Structure in European Y-Chromosome Haplogroup I

Document Type

Article

Publication Date

9-2010

Publication Title

Journal of Human Genetics

Keywords

AIDS progression, CD24L4/DDX3Y, Population growth, Population structure, Selection, Y chromosome

ISSN

1434-5161

Volume

55

Issue/No.

9

First Page

613

Last Page

620

Abstract

We attempted to refine the understanding of an association of Y-chromosomal haplogroup I (hg-I) with enhanced AIDS progression that had been previously reported. First, we compared the progression phenotype between hg-I and its phylogenetically closest haplogroup J. Then, we took a candidate gene approach resequencing DDX3Y, a crucial autoimmunity gene, in hg-I and other common European Y-chromosome haplogroups looking for functional variants. We extended the genetic analyses to CD24L4 and compared and contrasted the roles of disease-based selection, demographic history and population structure shaping the contemporary genetic landscape of hg-I chromosomes. Our results confirmed and refined the AIDS progression signal to hg-I, though no gene variant was identified that can explain the disease association. Molecular evolutionary and genetic analyses of the examined loci suggested a unique evolutionary history in hg-I, probably shaped by complex interactions of selection, demographic history and high geographical differentiation leading to the formation of distinct hg-I subhaplogroups that today are associated with HIV/AIDS onset. Clearly, further studies on Y-chromosome candidate loci sequencing to discover functional variants and discern the roles of evolutionary factors are warranted.

Comments

©2010 The Japan Society of Human Genetics All rights reserved

Additional Comments

National Cancer Institute contract #s: HHSN261200800001E, N01-CO-12400

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015

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