New Sequence Variations in Spermatogenesis Candidates Genes

Autores
Poli, María Noelia; Fernandez Iriarte, Pedro Jose; Iudica, Celia Estela; Zanier, Justo Hector Mario; Coco, Roberto
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and its potential value as a cause of azoospermia / cryptozoospermia.Patients and Methods: the sequencing of the coding region of the genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region was performed in a series of 25 patients with azoospeermia or severe oligozoospermia without AZF microdeletions. Exon 3 of DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database through Blastn and tblastx.Results and conclusions: 16 of the 25 patients showed some type of variants, such as transversions, transitions, deletions and / or insertions in the DAZ, DAZL, CDY and RBMY genes. The mutated sequences presented between 97 and 99% homology with the specific protein of every gene, except in DAZL (73%) and DAZ (94%) proteins. The variants found have not been described previously, suggesting they could be mutations that might affect protein function.
Fil: Poli, María Noelia. Universidad Nacional de Mar del Plata; Argentina. Asociación de Genética Humana; Argentina. Universidad Nacional de Mar del Plata; Argentina
Fil: Fernandez Iriarte, Pedro Jose. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mar del Plata. Instituto de Investigaciones Marinas y Costeras. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Investigaciones Marinas y Costeras; Argentina
Fil: Iudica, Celia Estela. Universidad Nacional de Mar del Plata; Argentina. Asociación de Genética Humana; Argentina
Fil: Zanier, Justo Hector Mario. Asociación de Genética Humana; Argentina
Fil: Coco, Roberto. Fecunditas Instituto de Medicina Reproductiva; Argentina
Materia
Male infertility
spermatogenesis candidate genes
New sequence variants
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/108325
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/108325
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling New Sequence Variations in Spermatogenesis Candidates GenesPoli, María NoeliaFernandez Iriarte, Pedro JoseIudica, Celia EstelaZanier, Justo Hector MarioCoco, RobertoMale infertilityspermatogenesis candidate genesNew sequence variantshttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and its potential value as a cause of azoospermia / cryptozoospermia.Patients and Methods: the sequencing of the coding region of the genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region was performed in a series of 25 patients with azoospeermia or severe oligozoospermia without AZF microdeletions. Exon 3 of DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database through Blastn and tblastx.Results and conclusions: 16 of the 25 patients showed some type of variants, such as transversions, transitions, deletions and / or insertions in the DAZ, DAZL, CDY and RBMY genes. The mutated sequences presented between 97 and 99% homology with the specific protein of every gene, except in DAZL (73%) and DAZ (94%) proteins. The variants found have not been described previously, suggesting they could be mutations that might affect protein function.Fil: Poli, María Noelia. Universidad Nacional de Mar del Plata; Argentina. Asociación de Genética Humana; Argentina. Universidad Nacional de Mar del Plata; ArgentinaFil: Fernandez Iriarte, Pedro Jose. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mar del Plata. Instituto de Investigaciones Marinas y Costeras. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Investigaciones Marinas y Costeras; ArgentinaFil: Iudica, Celia Estela. Universidad Nacional de Mar del Plata; Argentina. Asociación de Genética Humana; ArgentinaFil: Zanier, Justo Hector Mario. Asociación de Genética Humana; ArgentinaFil: Coco, Roberto. Fecunditas Instituto de Medicina Reproductiva; ArgentinaBrazilian Society of Assisted Reproduction2015-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/108325Poli, María Noelia; Fernandez Iriarte, Pedro Jose; Iudica, Celia Estela; Zanier, Justo Hector Mario; Coco, Roberto; New Sequence Variations in Spermatogenesis Candidates Genes; Brazilian Society of Assisted Reproduction; JBRA Assisted Reproduction; 19; 4; 9-2015; 216-2221518 0557CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.5935/1518-0557.20150042info:eu-repo/semantics/altIdentifier/url/https://europepmc.org/article/med/27203195info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2026-02-26T10:21:06Zoai:ri.conicet.gov.ar:11336/108325instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982026-02-26 10:21:06.312CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv New Sequence Variations in Spermatogenesis Candidates Genes
title New Sequence Variations in Spermatogenesis Candidates Genes
spellingShingle New Sequence Variations in Spermatogenesis Candidates Genes
Poli, María Noelia
Male infertility
spermatogenesis candidate genes
New sequence variants
title_short New Sequence Variations in Spermatogenesis Candidates Genes
title_full New Sequence Variations in Spermatogenesis Candidates Genes
title_fullStr New Sequence Variations in Spermatogenesis Candidates Genes
title_full_unstemmed New Sequence Variations in Spermatogenesis Candidates Genes
title_sort New Sequence Variations in Spermatogenesis Candidates Genes
dc.creator.none.fl_str_mv Poli, María Noelia
Fernandez Iriarte, Pedro Jose
Iudica, Celia Estela
Zanier, Justo Hector Mario
Coco, Roberto
author Poli, María Noelia
author_facet Poli, María Noelia
Fernandez Iriarte, Pedro Jose
Iudica, Celia Estela
Zanier, Justo Hector Mario
Coco, Roberto
author_role author
author2 Fernandez Iriarte, Pedro Jose
Iudica, Celia Estela
Zanier, Justo Hector Mario
Coco, Roberto
author2_role author
author
author
author
dc.subject.none.fl_str_mv Male infertility
spermatogenesis candidate genes
New sequence variants
topic Male infertility
spermatogenesis candidate genes
New sequence variants
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and its potential value as a cause of azoospermia / cryptozoospermia.Patients and Methods: the sequencing of the coding region of the genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region was performed in a series of 25 patients with azoospeermia or severe oligozoospermia without AZF microdeletions. Exon 3 of DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database through Blastn and tblastx.Results and conclusions: 16 of the 25 patients showed some type of variants, such as transversions, transitions, deletions and / or insertions in the DAZ, DAZL, CDY and RBMY genes. The mutated sequences presented between 97 and 99% homology with the specific protein of every gene, except in DAZL (73%) and DAZ (94%) proteins. The variants found have not been described previously, suggesting they could be mutations that might affect protein function.
Fil: Poli, María Noelia. Universidad Nacional de Mar del Plata; Argentina. Asociación de Genética Humana; Argentina. Universidad Nacional de Mar del Plata; Argentina
Fil: Fernandez Iriarte, Pedro Jose. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mar del Plata. Instituto de Investigaciones Marinas y Costeras. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Investigaciones Marinas y Costeras; Argentina
Fil: Iudica, Celia Estela. Universidad Nacional de Mar del Plata; Argentina. Asociación de Genética Humana; Argentina
Fil: Zanier, Justo Hector Mario. Asociación de Genética Humana; Argentina
Fil: Coco, Roberto. Fecunditas Instituto de Medicina Reproductiva; Argentina
description The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and its potential value as a cause of azoospermia / cryptozoospermia.Patients and Methods: the sequencing of the coding region of the genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region was performed in a series of 25 patients with azoospeermia or severe oligozoospermia without AZF microdeletions. Exon 3 of DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database through Blastn and tblastx.Results and conclusions: 16 of the 25 patients showed some type of variants, such as transversions, transitions, deletions and / or insertions in the DAZ, DAZL, CDY and RBMY genes. The mutated sequences presented between 97 and 99% homology with the specific protein of every gene, except in DAZL (73%) and DAZ (94%) proteins. The variants found have not been described previously, suggesting they could be mutations that might affect protein function.
publishDate 2015
dc.date.none.fl_str_mv 2015-09
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/108325
Poli, María Noelia; Fernandez Iriarte, Pedro Jose; Iudica, Celia Estela; Zanier, Justo Hector Mario; Coco, Roberto; New Sequence Variations in Spermatogenesis Candidates Genes; Brazilian Society of Assisted Reproduction; JBRA Assisted Reproduction; 19; 4; 9-2015; 216-222
1518 0557
CONICET Digital
CONICET
url http://hdl.handle.net/11336/108325
identifier_str_mv Poli, María Noelia; Fernandez Iriarte, Pedro Jose; Iudica, Celia Estela; Zanier, Justo Hector Mario; Coco, Roberto; New Sequence Variations in Spermatogenesis Candidates Genes; Brazilian Society of Assisted Reproduction; JBRA Assisted Reproduction; 19; 4; 9-2015; 216-222
1518 0557
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.5935/1518-0557.20150042
info:eu-repo/semantics/altIdentifier/url/https://europepmc.org/article/med/27203195
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Brazilian Society of Assisted Reproduction
publisher.none.fl_str_mv Brazilian Society of Assisted Reproduction
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.176822

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