Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • Calmodulin-Binding Proteins
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21*
  • Exons
  • Humans
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Rats
  • Sequence Alignment


  • Calmodulin-Binding Proteins
  • Nerve Tissue Proteins
  • Pcp4 protein, rat
  • PCP4 protein, human

Associated data

  • GENBANK/X88239
  • GENBANK/X93349