Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3.
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.
Chen
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Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland.
Bouras
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Antonarakis
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D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D002148:Calmodulin-Binding Proteins; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051381:Rats; D016415:Sequence Alignment
D002148:Calmodulin-Binding Proteins; D009419:Nerve Tissue Proteins; C489090:Pcp4 protein, rat; C050394:PCP4 protein, human