Chen H, Bouras C, Antonarakis S E
Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland.
Hum Genet. 1996 Dec;98(6):672-7. doi: 10.1007/s004390050282.
Exon trapping was used to identify fragments of genes on human chromosome 21. One trapped sequence, hmc 18h10 (GenBank no. X88329), showed homology to a sequence (GenBank no. S65225) that includes the first three codons of the rat PEP-19 gene and 5' untranslated leader region. We have cloned the corresponding cDNA for a human homolog of the rat PEP-19 gene and mapped it to the region between markers ERG and D21S56 of chromosome 21q22.2-q22.3. Rat PEP-19 is a neuron-specific polypeptide expressed in several regions of the central nervous system. It serves as a cell-specific marker in Purkinje cells and its expression is developmentally regulated in the cerebellum, but its precise function is unknown. It is also presently unknown whether overexpression of the PEP-19 gene is involved in certain phenotypes of Down syndrome.
外显子捕获技术被用于鉴定人类21号染色体上的基因片段。一个捕获序列hmc 18h10（基因库编号：X88329）与一个序列（基因库编号：S65225）具有同源性，该序列包含大鼠PEP - 19基因的前三个密码子和5'非翻译前导区。我们已经克隆了大鼠PEP - 19基因人类同源物的相应cDNA，并将其定位到21号染色体21q22.2 - q22.3区域中标记ERG和D21S56之间。大鼠PEP - 19是一种在中枢神经系统多个区域表达的神经元特异性多肽。它在浦肯野细胞中作为细胞特异性标志物，其表达在小脑中受到发育调控，但其确切功能尚不清楚。目前也不清楚PEP - 19基因的过表达是否与唐氏综合征的某些表型有关。
