Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers

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State: Public
Version: Final published version
Serval ID
serval:BIB_8D2EECA298D3
Type
Article: article from journal or magazin.
Collection
Publications
Title
Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers
Journal
Bmc Genomics
Author(s)
Navarro-Costa P., Pereira L., Alves C., Gusmão L., Proença C., Marques-Vidal P., Rocha T., Correia S. C., Jorge S., Neves A., Soares A. P., Nunes J., Calhaz-Jorge C., Amorim A., Plancha C. E., Gonçalves J.
ISSN
1471-2164 (Electronic)
ISSN-L
1471-2164
Publication state
Published
Issued date
2007
Volume
8
Pages
342-342
Language
english
Notes
Publication types: Research Article ; research-article
Identifiant PubMed Central: PMC2151955
Abstract
BACKGROUND: The AZFc region of the human Y chromosome is a highly recombinogenic locus containing multi-copy male fertility genes located in repeated DNA blocks (amplicons). These AZFc gene families exhibit slight sequence variations between copies which are considered to have functional relevance. Yet, partial AZFc deletions yield phenotypes ranging from normospermia to azoospermia, thwarting definite conclusions on their real impact on fertility.
RESULTS: The amplicon content of partial AZFc deletion products was characterized with novel amplicon-specific sequence markers. Data indicate that partial AZFc deletions are a male infertility risk [odds ratio: 5.6 (95% CI: 1.6-30.1)] and although high diversity of partial deletion products and sequence conversion profiles were recorded, the AZFc marker profiles detected in fertile men were also observed in infertile men. Additionally, the assessment of rearrangement recurrence by Y-lineage analysis indicated that while partial AZFc deletions occurred in highly diverse samples, haplotype diversity was minimal in fertile men sharing identical marker profiles.
CONCLUSION: Although partial AZFc deletion products are highly heterogeneous in terms of amplicon content, this plasticity is not sufficient to account for the observed phenotypical variance. The lack of causative association between the deletion of specific gene copies and infertility suggests that AZFc gene content might be part of a multifactorial network, with Y-lineage evolution emerging as a possible phenotype modulator.
Keywords
Infertility, Male/genetics
Pubmed
Web of science
Open Access
Yes
Create date
01/12/2016 15:01
Last modification date
20/08/2019 14:51
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