• PMID: 12569175
• Gene Name: PRM1
• Condition: Male infertility
• Association: Associated
• Mutation: PRM2 (c248t alteration)
• Population size: 496
• Population details: 496 (226 sterile male patients, 270 proven-fertile male volunteers)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: PRM1, PRM2
• Other associated phenotypes: Male infertility

Single nucleotide polymorphisms in the protamine-1 and -2 genes of fertile and infertile human male populations

Tanaka H, Miyagawa Y, Tsujimura A, Matsumiya K, Okuyama A, Nishimune Y.

Although various genetic factors have been implicated in human male infertility, the causative genes for the different types of idiopathic male infertility have not been elucidated. Protamines, which are the major DNA-binding proteins in the sperm nucleus, package the DNA into the sperm head. Analysis of the human protamine-1 (PRM1) and -2 (PRM2) gene sequences in 226 sterile male patients and in 270 proven-fertile male volunteers revealed four single nucleotide polymorphisms (SNPs) in the PRM1 coding region, which did not cause any amino acid substitutions, and one SNP in the PRM2 gene, which produced translation termination. We also observed one SNP in the 3' non-coding region of the PRM1 gene, and two SNPs within the intron of the PRM2 gene. The prevalence of these SNPs was similar in both infertile patients and in proven-fertile volunteers, except that the c248t alteration in the PRM2 gene induced a nonsense codon under conditions of heterozygosity in one infertile patient. Although the PRM1 and PRM2 genes are highly conserved, the single SNP in the PRM2 gene that induces translation termination may result in male infertility due to haploinsufficiency of PRM2. FAU - Tanaka, Hiromitsu AU - Tanaka H AD - Department of Science for Laboratory Animal Experimentation, Research Institute for Microbial Diseases, Osaka University, Yamadaoka, Suita City, Japan. FAU - Miyagawa, Yasushi AU - Miyagawa Y FAU - Tsujimura, Akira AU - Tsujimura A FAU - Matsumiya, Kiyomi AU - Matsumiya K FAU - Okuyama, Akihiko AU - Okuyama A