Please use this identifier to cite or link to this item: http://hdl.handle.net/10216/109263
Author(s): Navarro-Costa, P
Pereira, L
Alves, C
Gusmão, L
Proença, C
Marques-Vidal, P
Rocha, T
Correia, SC
Jorge, S
Neves, A
Soares, AP
Nunes, J
Calhaz-Jorge, C
Amorim, A
Plancha, CE
Gonçalves, J
Title: Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers
Publisher: BioMed Central
Issue Date: 2007
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.
Subject: Base Sequence
Chromosome Aberrations
Chromosome Deletion
Chromosome Mapping
Chromosomes Human Y
Genetic Markers
Humans
Infertility Male/genetics
Male
Risk Factors
URI: http://hdl.handle.net/10216/109263
Source: BMC Genomics, vol. 8:342
Related Information: info:eu-repo/grantAgreement/FCT/POCI/930/PT
Document Type: Artigo em Revista Científica Internacional
Rights: openAccess
License: https://creativecommons.org/licenses/by/2.0/
Appears in Collections:I3S - Artigo em Revista Científica Internacional

Files in This Item:
File Description SizeFormat 
Navarro-Costa2007BMCGenomics.pdf597.13 kBAdobe PDFThumbnail
View/Open
Navarro-Costa2007BMCGenomicsSup1.doc430.5 kBMicrosoft WordView/Open
Navarro-Costa2007BMCGenomicsSup2.doc29 kBMicrosoft WordView/Open


This item is licensed under a Creative Commons License Creative Commons