Faculty of Pharmaceutical Sciences, Nagasaki International University, Huis Ten Bosch, Sasebo, Nagasaki, Japan
Department of Urology, Graduate School of Medicine, Osaka University, Yamadaoka, Suita, Osaka, Japan
Department of Urology, Juntendo University Hospital, Hongo, bunnkyouku, Tokyo, Japan
Faculty of Pharmaceutical Sciences
Nagasaki International University
Huis Ten Bosch
Any use, distribution, reproduction or abstract of this publication in any medium, with the exception of commercial purposes, is permitted provided the original work is properly cited. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Genetic Polymorphisms within The Intronless ACTL7A and
ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like
Proteins in Japanese Males .
Int J Fertil Steril.
Actins play essential roles in cellular morphogenesis. In mice, the T-actin1 and 2 genes, which encode actin-like
proteins, are specifically expressed in haploid germ cells. Both T-ACTIN1/ACTLB and T-ACTIN2/ACTL7A have also
been cloned and studied. The orthologous genes in humans are present on chromosome 9q31.3 as intronless genes.
Defects of germ cell-specific genes can introduce infertility without somatic function impairment. We determined T-
ACTIN1 and 2, specifically expressed in the testis using reverse-transcription polymerase chain reaction (RT-PCR).
To examine whether genetic polymorphisms of the T-ACTIN1 and 2 genes are associated with male infertility, we
screened for T-ACTIN1 and 2 polymorphisms by direct sequencing of DNA from 282 sterile and 89 fertile Japanese
men. We identified five and six single nucleotide polymorphisms (SNPs) in the T-ACTIN1 and 2 regions of the sterile
and fertile subjects respectively. Among these genetic polymorphisms was a novel SNP that was not in the National
Center for Biotechnology Information SNP database. Although we could not determine whether these SNPs cause
infertility, the prevalence of these genetic polymorphisms may be useful for analyzing polymorphisms in future large-
scale genetic analyses.