New sequence variations in spermatogenesis candidates genes
Objective: The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and their potential role as a cause of azoospermia /cryptozoospermia. Patients and Methods: The sequencing of the coding region of genes DBY, RBMY, DAZ, CDY and B...
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todo:paper_15175693_v19_n4_p216_Poli2023-10-03T16:19:51Z New sequence variations in spermatogenesis candidates genes Poli, M.N. Iriarte, P.F. Iudica, C. Mario Zanier, J.H. Coco, R. Male infertility Spermatogenesis candidate genes new sequence variants adult Article azoospermia chromosome gene mutation human karyotype major clinical study male male infertility middle aged polymerase chain reaction protein function sequence analysis spermatogenesis Objective: The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and their potential role as a cause of azoospermia /cryptozoospermia. Patients and Methods: The sequencing of the coding region of genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region, was performed in a series of 25 patients with azoospermia or severe oligozoospermia without AZF microdeletions. The exon 3 from the DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database using Blastn and tblastx. Results: 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 had between 97 and 99% homology with the specific protein of every gene, except the DAZL (73%) and DAZ (94%) proteins. Conclusions: The variants found have not been described previously, suggesting they could be mutations that might affect protein function. © 2015, Sociedade Brasileira de Reproducao Assistida. All rights reserved. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_15175693_v19_n4_p216_Poli |
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Universidad de Buenos Aires |
institution_str |
I-28 |
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R-134 |
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Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
topic |
Male infertility Spermatogenesis candidate genes new sequence variants adult Article azoospermia chromosome gene mutation human karyotype major clinical study male male infertility middle aged polymerase chain reaction protein function sequence analysis spermatogenesis |
spellingShingle |
Male infertility Spermatogenesis candidate genes new sequence variants adult Article azoospermia chromosome gene mutation human karyotype major clinical study male male infertility middle aged polymerase chain reaction protein function sequence analysis spermatogenesis Poli, M.N. Iriarte, P.F. Iudica, C. Mario Zanier, J.H. Coco, R. New sequence variations in spermatogenesis candidates genes |
topic_facet |
Male infertility Spermatogenesis candidate genes new sequence variants adult Article azoospermia chromosome gene mutation human karyotype major clinical study male male infertility middle aged polymerase chain reaction protein function sequence analysis spermatogenesis |
description |
Objective: The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and their potential role as a cause of azoospermia /cryptozoospermia. Patients and Methods: The sequencing of the coding region of genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region, was performed in a series of 25 patients with azoospermia or severe oligozoospermia without AZF microdeletions. The exon 3 from the DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database using Blastn and tblastx. Results: 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 had between 97 and 99% homology with the specific protein of every gene, except the DAZL (73%) and DAZ (94%) proteins. Conclusions: The variants found have not been described previously, suggesting they could be mutations that might affect protein function. © 2015, Sociedade Brasileira de Reproducao Assistida. All rights reserved. |
format |
JOUR |
author |
Poli, M.N. Iriarte, P.F. Iudica, C. Mario Zanier, J.H. Coco, R. |
author_facet |
Poli, M.N. Iriarte, P.F. Iudica, C. Mario Zanier, J.H. Coco, R. |
author_sort |
Poli, M.N. |
title |
New sequence variations in spermatogenesis candidates genes |
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 |
url |
http://hdl.handle.net/20.500.12110/paper_15175693_v19_n4_p216_Poli |
work_keys_str_mv |
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