• PMID: 22286816
• Gene Name: TSPY
• Condition: Impaired fertility, impaired spermatogenesis
• Association: Associated
• Mutation: TSPY (c.T16>C Ser/Pro, c.T25>C Tyr/His, c.A36>C silent mutation, c.36_42 AGAGAGG/CAT, c.39G>C Glu/Asp, c.G48>A silent mutation, c.G51>T Gln/His, c.T56>C Phe/Ser, c.G59>A Cys/Tyr, c.G68>A Gly/Asp, c.C70>G Arg/Gly, c.G71>A Arg/Gln, c.G72>A silent mutation,
• Population size: 103
• Population details: 103 (72 infertile men, 31 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: TSPY
• Other associated phenotypes: Impaired fertility, impaired spermatogenesis

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

Svacinova V, Vodicka R, Vrtel R, Godava M, Kvapilova M, Krejcirikova E, Dusek L, Bortlicek Z, Santavy J.

AIM: 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 1(st) 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. FAU - Svacinova, Veronika AU - Svacinova V AD - Department of Medical Genetics and Foetal Medicine, Palacky University Olomouc and University Hospital Olomouc, Czech Republic. vodickar@fnol.cz FAU - Vodicka, Radek AU - Vodicka R FAU - Vrtel, Radek AU - Vrtel R FAU - Godava, Marek AU - Godava M FAU - Kvapilova, Marcela AU - Kvapilova M FAU - Krejcirikova, Eva AU - Krejcirikova E FAU - Dusek, Ladislav AU - Dusek L FAU - Bortlicek, Zbynek AU - Bortlicek Z