Klotho gene polymorphism and its progress.docVIP

 PAGE \* MERGEFORMAT 15 Klotho gene polymorphism and its progress [Keywords:] klotho gene, polymorphism, research progress Klotho gene is Kuro, etc. (1) in 1997 found new genes related to senescence, and with the ancient Greek mythology the goddess of the textile line of life named. Klotho gene is knockout mice (KL-/ mice) can similar variety of human aging phenotypes, such as shortened life expectancy, infertility, arteriosclerosis, skin atrophy, osteoporosis, emphysema. klotho in recent years the relationship between gene polymorphism and disease gradually attention now the status of the study are summarized below. 1 Klotho gene structure Klotho gene is 50 kb, from 5 exons and 4 introns (2,3). Human klotho gene is located in 13q12, klotho gene operon there is no TATA box and CAAT box, but there are five potential the SP1 binding sites, flanking exons 1 and 2 000 bp sequence, G + C content of 66.75% on average, up to 98%, suggesting that this region in the presence of CpG islands (1,4). In the klotho gene structure, the RNA there is a potential alternative splicing sites, this one point if we accept a 50 bp fragment inserted into the sequence of the TA will be at the end of two nucleotides and explicit The first sub-4 G nucleotides together to form a stop codon TAG, making this truncated RNA to form a short open reading frame, contains only 3 exons and 2 introns and encode secreted klotho protein. But If there is no variable splice site 50 bp fragment insertion, the RNA is a complete structure, including 5 exons and 4 introns and encoded to form a membrane-type klotho protein.’s membrane klotho cDNA length of 3 036 bp, full-length cDNA secreted 1 647 bp. klotho gene expression in membrane protein is a single membrane-type transmembrane protein, including an N terminal signal sequence, with two internal repeats of KL1 and KL2 extracellular region, a single transmembrane domain and a short intracellular domain. in a period between KL1 and KL2 Lys Lys