Sequence recombination in exon 1 of the TSPY gene in men with
impaired fertility

J 2011

Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility

SVAČINOVÁ, Veronika; Radek VODIČKA; Radek VRTĚL; Marek GODAVA; Marcela KVAPILOVÁ et al.

Základní údaje

Originální název

Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility

Autoři

SVAČINOVÁ, Veronika; Radek VODIČKA; Radek VRTĚL; Marek GODAVA; Marcela KVAPILOVÁ; Eva KREJČIŘÍKOVÁ; Ladislav DUŠEK; Zbyněk BORTLÍČEK a Jiří ŠANTAVÝ

Vydání

Biomedical Papers, 2011, 1213-8118

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30000 3. Medical and Health Sciences

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 0.702

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/11:00054072

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.5507/bp.2011.034

UT WoS

000297807500011

Klíčová slova anglicky

TSPY gene; Male infertility; Y chromosome; SET; NAP domain

Příznaky

Mezinárodní význam

Změněno: 23. 3. 2012 13:49, Mgr. Michal Petr

Anotace

V originále

The aim of this study was to evaluate TSPY (testis specific protein on the Y chromosome) gene and 5’UTR (UnTranslated Region) polymorphisms in men with impaired fertility compared to fertile controls. Methods. We analyzed 72 infertile men and 31 fertile controls usingconventional sequencing analysis to find crucial SNPs (single nucleotide polymorphism) and other changes. Results. The most remarkable changes were found in the 1st exon only. In one half of the both infertile men and fertile controls, the most frequent finding was 26 SNPs with a similar pattern. In the other half we found highly relevant changes, generating a stop codon in the first third of exon 1. Early termination cut down the protein by 78.5%. This kind of change was not found in the fertile controls. No correlation was found between the spermiogram and the changes leading to the stop codon. The distribution of men with deletions, insertion and higher gene copy number was not statistically different. Conclusion. The changes found in exon 1 in infertile men could fundamentally affect the process of spermatogenesis. These findings could significantly enhance our understanding of the molecular-genetic causes of male infertility.

Citovat

SVAČINOVÁ, Veronika; Radek VODIČKA; Radek VRTĚL; Marek GODAVA; Marcela KVAPILOVÁ; Eva KREJČIŘÍKOVÁ; Ladislav DUŠEK; Zbyněk BORTLÍČEK a Jiří ŠANTAVÝ. Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility. Biomedical Papers. 2011, roč. 155, č. 3, s. 287-298. ISSN 1213-8118. Dostupné z: https://doi.org/10.5507/bp.2011.034.

@article{959847,
   author = {Svačinová, Veronika and Vodička, Radek and Vrtěl, Radek and Godava, Marek and Kvapilová, Marcela and Krejčiříková, Eva and Dušek, Ladislav and Bortlíček, Zbyněk and Šantavý, Jiří},
   article_number = {3},
   doi = {https://doi.org/10.5507/bp.2011.034},
   keywords = {TSPY gene; Male infertility; Y chromosome; SET; NAP domain},
   language = {eng},
   issn = {1213-8118},
   journal = {Biomedical Papers},
   title = {Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility},
   volume = {155},
   year = {2011}
}

TY  - JOUR
ID  - 959847
AU  - Svačinová, Veronika - Vodička, Radek - Vrtěl, Radek - Godava, Marek - Kvapilová, Marcela - Krejčiříková, Eva - Dušek, Ladislav - Bortlíček, Zbyněk - Šantavý, Jiří
PY  - 2011
TI  - Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility
JF  - Biomedical Papers
VL  - 155
IS  - 3
SP  - 287-298
EP  - 287-298
SN  - 12138118
KW  - TSPY gene
KW  - Male infertility
KW  - Y chromosome
KW  - SET
KW  - NAP domain
N2  - The aim of this study was to evaluate TSPY (testis specific protein on the Y chromosome) gene and 5’UTR (UnTranslated Region) polymorphisms in men with impaired fertility compared to fertile controls. Methods. We analyzed 72 infertile men and 31 fertile controls usingconventional sequencing analysis to find crucial SNPs (single nucleotide polymorphism) and other changes. Results. The most remarkable changes were found in the 1st exon only. In one half of the both infertile men and fertile controls, the most frequent finding was 26 SNPs with a similar pattern. In the other half we found highly relevant changes, generating a stop codon in the first third of exon 1. Early termination cut down the protein by 78.5%. This kind of change was not found in the fertile controls. No correlation was found between the spermiogram and the changes leading to the stop codon. The distribution of men with deletions, insertion and higher gene copy number was not statistically different. Conclusion. The changes found in exon 1 in infertile men could fundamentally affect the process of spermatogenesis. These findings could significantly enhance our understanding of the molecular-genetic causes of male infertility.
ER  -

SVAČINOVÁ, Veronika; Radek VODIČKA; Radek VRTĚL; Marek GODAVA; Marcela KVAPILOVÁ; Eva KREJČIŘÍKOVÁ; Ladislav DUŠEK; Zbyněk BORTLÍČEK a Jiří ŠANTAVÝ. Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility. \textit{Biomedical Papers}. 2011, roč.~155, č.~3, s.~287-298. ISSN~1213-8118. Dostupné z: https://doi.org/10.5507/bp.2011.034.

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