Abstract
Exon trapping was used to identify fragments of genes on human chromosome 21. One trapped sequence, hmc18h10 (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.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 3 May 1996 / Revised: 2 July 1996
Rights and permissions
About this article
Cite this article
Chen, H., Bouras, C. & Antonarakis, S. Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2–q22.3. Hum Genet 98, 672–677 (1996). https://doi.org/10.1007/s004390050282
Issue Date:
DOI: https://doi.org/10.1007/s004390050282