Identification of a Testis-Expressed Creatine Transporter Gene at 16p11.2 and Confirmation of the X-Linked Locus to Xq28

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• 作者：Iyer ; Geeta S. ; Krahe ; Ralf ; Goodwin ; Lynne A. ; Doggett ; Norman A. ; Siciliano ; Michael J. ; et. al.
• 刊名：Genomics
• 出版年：1996
• 出版时间：May 15, 1996
• 年：1996
• 卷：34
• 期：1
• 页码：143-146
• 全文大小：109 K

文摘

Creatine and creatine phosphate act as a buffer system for the regeneration of ATP in tissues with fluctuating energy demands. Following reports of the cloning of a creatine transporter in rat, rabbit, and human, we cloned and sequenced a creatine transporter from a human intestinal cDNA library. PCR amplification of genomic DNAs from somatic cell hybrid panels localized two creatine transporter (CT) genes:CT1to Xq26–q28 andCT2to 16p11.2. Refinement ofCT1to Xq28 was confirmed by FISH. Identification ofCT2sequences in YACs and cosmid contigs that had been ordered on human chromosome 16 enabled its assignment to the proximal end of 16p11.2. Sequencing of theCT2gene identified sequence differences betweenCT1andCT2transcripts that were utilized to determine thatCT2is expressed in testis only.CT2is the most proximally identified gene on chromosome 16p to date. The existence of an autosomal, testis-specific form of the human creatine transporter gene suggests that creatine transporter activity is critical for normal function of spermatazoa following meiosis.