ｱｸﾁﾝｷｬｯﾋﾟﾝｸﾞ蛋白質 GSG3/CAPZA3 は､受精可能な精子の形態形成に重要な役割を担っている｡GSG3/CAPZA3 遺伝子は､ｲﾝﾄﾛﾝﾚｽ遺伝子として哺乳類に保存され､ﾏｳｽにおいてﾐｯｾﾝｽ変異が精子の減少と形態異常を誘導し､雄性不妊症の原因となることが知られている｡日本人において男性不妊症と GSG3/CAPZA3 遺伝子多型の関係を調べるため､261人の男性不妊症患者と139人の妊孕性が確認された男性ﾎﾞﾗﾝﾃｨｱの遺伝子多型を調べた｡その結果､妊孕性が確認された男性ﾎﾞﾗﾝﾃｨｱの一人にｱﾐﾉ酸置換を伴う一塩基多型がﾍﾃﾛ接合型として検出された｡このことから､GSG3/CAPZA3 遺伝子には､他の精子細胞特異的ｲﾝﾄﾛﾝﾚｽ遺伝子に比べて遺伝子多型が極めてわずかしか存在しないことが示唆された｡The actin capping protein GSG3/CAPZA3 plays a physiologically important role in maintaining sperm architecture for fertilization. The GSG3/CAPZA3 gene is conserved in mammals and lacks introns. A missense mutation in the CAPZA3 gene in mice causes male infertility by reducing the concentration and changing the shape of sperm. To investigate possible associations between GSG3/CAPZA3 gene variations and impaired spermatogenesis in Japanese males, we screened for mutations in GSG3/CAPZA3 using DNA from 261 sterile male patients and 139 male volunteers who were fertile. A single nucleotide polymorphism(SNP)was found in one sample in the heterozygous state in the fertile male volunteers. The results indicate that compared with other germ-cell-specific intronless genes the change was restricted in GSG3/CAPZA3 protein
