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

• Type: Article in International Scientific Journal
• Date: 2007

Authors

Paulo Navarro Costa (Author) Other; Luisa Pereira (Author) Other; Cintia Alves (Author) Other; Leonor Gusmao (Author) Other; Carmen Proenca (Author) Other; Pedro Marques Vidal (Author) Other; Tiago Rocha (Author) Other; Sonia C Correia (Author) Other; Sonia Jorge (Author) Other; Antonio Neves (Author) Other; Ana P Soares (Author) Other; Joaquim Nunes (Author) Other; Carlos Calhaz Jorge (Author) Other; Antonio Amorim (Author) FCUP; Carlos E Plancha (Author) Other; Joao Goncalves (Author) Other

Journal

Title: BMC Genomics

Vol. 8

Final page: 342

ISSN: 1471-2164

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 22 Citations

Scopus - 26 Citations

Scientific classification

FOS: Natural sciences > Biological sciences

Other information

Authenticus ID: P-004-7E5

DOI: 10.1186/1471-2164-8-342

Abstract (EN): Background: The AZFc region of the human Y chromosome is a highly recombinogenic locus containing multicopy 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 9