Title

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

Authors

Efe Sezgin, National Cancer Institute at Frederick
Alyssa Drosdak, National Cancer Institute at Frederick
Carl McIntosh, National Cancer Institute at Frederick
Bailey Kessing, National Cancer Institute at Frederick
J. A. Lautenberger, National Cancer Institute at Frederick
James J. Goedert, National Cancer Institute at Rockville
John Phair, Northwestern University Medical School
Jennifer L. Troyer, National Cancer Institute at Frederick
Michael W. Smith, National Cancer Institute at Frederick
Stephen J. O'Brien, National Cancer Institute at FrederickFollow

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

NSUWorks Citation

Sezgin, Efe; Alyssa Drosdak; Carl McIntosh; Bailey Kessing; J. A. Lautenberger; James J. Goedert; John Phair; Jennifer L. Troyer; Michael W. Smith; and Stephen J. O'Brien. 2010. "Examination of Disease-Based Selection, Demographic History and Population Structure in European Y-Chromosome Haplogroup I." Journal of Human Genetics 55, (9): 613-620. https://nsuworks.nova.edu/cnso_bio_facarticles/460

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015