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Publication : cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes.

First Author  Aho S Year  1998
Journal  Genomics Volume  48
Issue  2 Pages  242-7
PubMed ID  9521878 Mgi Jnum  J:46649
Mgi Id  MGI:1201727 Doi  10.1006/geno.1997.5188
Citation  Aho S, et al. (1998) cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes. (Errata: Genomics 1998;51:481). Genomics 48(2):242-7
abstractText  A portion of the intracellular domain of Type XVII collagen, used as a bait in a yeast two-hybrid screen of an epidermal keratinocyte cDNA library, identified overlapping cDNA clones that showed a high degree of homology to envoplakin and other members of the plakin family of intermediate filament connector molecules, Subsequent cloning allowed identification of contiguous cDNA sequences with an open reading frame of 5268 bp encoding a putative polypeptide of 1756 amino acids with a computed molecular mass of 204.7 kDa, Northern analysis using these cDNA clones revealed a prominent band of similar to 6.5 kb in keratinocytes, which was barely detectable in fibroblasts, Multiple tissue RNA analysis showed that this protein is highly expressed in tissues with a prominent; component of epithelial cells. This novel member of the plakin family was designated periplakin. The human gene (PPL) was mapped to the interval between D16S510 and D16S509 by radiation hybrid mapping, corresponding to chromosomal band 16p13. Murine ESTs having 97.2% amino acid identity to the human sequence were identified. Interspecific backcross mapping was used to place the murine periplakin gene (Ppl) 0.53 cM distal to marker D16mit32 on the proximal part of murine chromosome 16, close to the locus of mahoganoid (md), a mouse hair mutant. Mapping of this gene in human and mouse will allow evaluation of periplakin as a candidate locus for disorders of epithelial fragility, with or without other phenotypes. (C) 1998 Academic Press.
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