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Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency
Joint Authors
Soardi, Fernanda C.
Nishi, Mirian Yumi
Maciel-Guerra, Andréa Trevas
Ferraz-de-Souza, Bruno
Mendonca, Berenice Bilharinho
Pereira, Carlos A.
Machado, Aline Z.
Domenice, Sorahia
Jorge, Soraia A. C.
Santos, Mariza G.
Costa, Elaine M. F.
Martins, Conceição N.
Guerra-Junior, Gil
de Mello, Maricilda Palandi
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-06-26
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Despite the increasing understanding of female reproduction, the molecular diagnosis of primary ovarian insufficiency (POI) is seldom obtained.
The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis.
We performed mutational analysis of NANOS3 in a cohort of 85 Brazilian women with familial or isolated POI, presenting with primary or secondary amenorrhea, and in ethnically-matched control women.
A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea.
The substituted amino acid is located within the second C2HC motif in the conserved zinc finger domain of NANOS3 and in silico molecular modelling suggests destabilization of protein-RNA interaction.
In vitro analyses of apoptosis through flow cytometry and confocal microscopy show that NANOS3 capacity to prevent apoptosis was impaired by this mutation.
The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology.
American Psychological Association (APA)
Santos, Mariza G.& Machado, Aline Z.& Martins, Conceição N.& Domenice, Sorahia& Costa, Elaine M. F.& Nishi, Mirian Yumi…[et al.]. 2014. Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency. BioMed Research International،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-498101
Modern Language Association (MLA)
Santos, Mariza G.…[et al.]. Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency. BioMed Research International No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-498101
American Medical Association (AMA)
Santos, Mariza G.& Machado, Aline Z.& Martins, Conceição N.& Domenice, Sorahia& Costa, Elaine M. F.& Nishi, Mirian Yumi…[et al.]. Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-498101
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-498101