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

Détails

Ressource 1Télécharger: 1471-2164-8-342.pdf (1039.00 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_8D2EECA298D3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers
Périodique
Bmc Genomics
Auteur(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
Statut éditorial
Publié
Date de publication
2007
Volume
8
Pages
342-342
Langue
anglais
Notes
Publication types: Research Article ; research-article
Identifiant PubMed Central: PMC2151955
Résumé
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.
Mots-clé
Infertility, Male/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
01/12/2016 16:01
Dernière modification de la notice
20/08/2019 15:51
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