Examination of disease-based selection, demographic history and population structure in European Y-chromosome haplogroup i

Efe Sezgin, Alyssa Drosdak, Carl McIntosh, Bailey Kessing, James A. Lautenberger, James J. Goedert, John P. Phair, Jennifer L. Troyer, Michael W. Smith, Stephen J. O'Brien

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)613-620
Number of pages8
JournalJournal of Human Genetics
Volume55
Issue number9
DOIs
StatePublished - Sep 2010
Externally publishedYes

Fingerprint

Y Chromosome
Acquired Immunodeficiency Syndrome
Demography
Population
Genes
Autoimmunity
Molecular Biology
Chromosomes
History
HIV
Phenotype

Keywords

  • AIDS progression
  • CD24L4/DDX3Y
  • population growth
  • population structure
  • selection
  • Y chromosome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Sezgin, E., Drosdak, A., McIntosh, C., Kessing, B., Lautenberger, J. A., Goedert, J. J., ... O'Brien, S. J. (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://doi.org/10.1038/jhg.2010.77

Examination of disease-based selection, demographic history and population structure in European Y-chromosome haplogroup i. / Sezgin, Efe; Drosdak, Alyssa; McIntosh, Carl; Kessing, Bailey; Lautenberger, James A.; Goedert, James J.; Phair, John P.; Troyer, Jennifer L.; Smith, Michael W.; O'Brien, Stephen J.

In: Journal of Human Genetics, Vol. 55, No. 9, 09.2010, p. 613-620.

Research output: Contribution to journalArticle

Sezgin, E, Drosdak, A, McIntosh, C, Kessing, B, Lautenberger, JA, Goedert, JJ, Phair, JP, Troyer, JL, Smith, MW & O'Brien, SJ 2010, 'Examination of disease-based selection, demographic history and population structure in European Y-chromosome haplogroup i', Journal of Human Genetics, vol. 55, no. 9, pp. 613-620. https://doi.org/10.1038/jhg.2010.77
Sezgin, Efe ; Drosdak, Alyssa ; McIntosh, Carl ; Kessing, Bailey ; Lautenberger, James A. ; Goedert, James J. ; Phair, John P. ; Troyer, Jennifer L. ; Smith, Michael W. ; O'Brien, Stephen J. / Examination of disease-based selection, demographic history and population structure in European Y-chromosome haplogroup i. In: Journal of Human Genetics. 2010 ; Vol. 55, No. 9. pp. 613-620.
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