PMID- 10051401
OWN - NLM
STAT- MEDLINE
DCOM- 19990422
LR  - 20081121
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 56
IP  - 2
DP  - 1999 Mar 1
TI  - Human periplakin: genomic organization in a clonally unstable region of
      chromosome 16p with an abundance of repetitive sequence elements.
PG  - 160-8
AB  - Periplakin, a member of the plakin family of proteins, has been recently
      characterized by cDNA cloning, and the corresponding gene, PPL, has been mapped
      to human chromosome 16p13.3 (Aho et al., 1998, Genomics 48: 242-247). Periplakin 
      has also been shown to serve as an autoantigen in a malignancy-associated
      autoimmune blistering disease, paraneoplastic pemphigus (Mahoney et al., 1998, J.
      Invest. Dermatol. 111: 308-313). In this study, we have elucidated the
      intron-exon organization of human PPL and characterized its promoter region. The 
      flanking 5' sequences were rich in G and C ( approximately 80%) and included
      multiple AP2 sites and a SP1 site, while no canonical TATA or CCAAT sequences
      were found. The functionality of the upstream sequences (-709 to +135) as a
      promoter in cultured epidermal keratinocytes was detected by a CAT reporter gene,
      and a limited region (-382 to +135) showed activity in cultured dermal
      fibroblasts, attesting to cell-type specificity of the promoter. The genomic
      organization, including the intron-exon borders, was determined by direct
      nucleotide sequencing of human genomic P1 clones. Comparative analysis of cDNA
      and genomic sequences revealed that PPL consists of 22 exons, with the
      distribution of exons in PPL being consistent with that of other plakin genes: 21
      small exons, separated by large introns, encode the amino-terminal globular
      domain, and 1 large exon encodes the entire rod and the tail domains.
      Characterization of four P1 clones spanning the PPL locus revealed multiple Alu
      repeats, 20 of them within 33 kb of the entirely sequenced segments (0.60/kb), in
      addition to numerous MIR and L1 elements. These repetitive elements could lead to
      the clonal instability detected throughout the genomic P1 clones and may give
      rise to the genomic rearrangements possibly underlying the paraneoplastic
      pemphigus.
CI  - Copyright 1999 Academic Press.
FAU - Aho, S
AU  - Aho S
AD  - Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson
      University, Philadelphia, Pennsylvania 19107, USA.
FAU - Rothenberger, K
AU  - Rothenberger K
FAU - Tan, E M
AU  - Tan EM
FAU - Ryoo, Y W
AU  - Ryoo YW
FAU - Cho, B H
AU  - Cho BH
FAU - McLean, W H
AU  - McLean WH
FAU - Uitto, J
AU  - Uitto J
LA  - eng
SI  - GENBANK/AF040999
SI  - GENBANK/AF041000
SI  - GENBANK/AF041001
SI  - GENBANK/AF041002
SI  - GENBANK/AF041003
SI  - GENBANK/AF041004
GR  - P01-AR38923/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (DNA, Recombinant)
RN  - 0 (PPL protein, human)
RN  - 0 (Plakins)
RN  - 9007-49-2 (DNA)
RN  - EC 2.3.1.28 (Chloramphenicol O-Acetyltransferase)
RN  - EC 3.1.21.- (DNA Restriction Enzymes)
SB  - IM
MH  - Base Sequence
MH  - Chloramphenicol O-Acetyltransferase/genetics
MH  - Chromosomes, Human, Pair 16/genetics
MH  - Cytoskeletal Proteins/*genetics
MH  - DNA/genetics/metabolism
MH  - DNA Restriction Enzymes/metabolism
MH  - DNA, Recombinant/genetics
MH  - Exons
MH  - Genes/genetics
MH  - Genomic Library
MH  - Humans
MH  - Introns
MH  - Molecular Sequence Data
MH  - Plakins
MH  - Promoter Regions, Genetic/genetics
MH  - Repetitive Sequences, Nucleic Acid
EDAT- 1999/03/03 00:00
MHDA- 1999/03/03 00:01
CRDT- 1999/03/03 00:00
PHST- 1999/03/03 00:00 [pubmed]
PHST- 1999/03/03 00:01 [medline]
PHST- 1999/03/03 00:00 [entrez]
AID - S0888-7543(98)95704-4 [pii]
AID - 10.1006/geno.1998.5704 [doi]
PST - ppublish
SO  - Genomics. 1999 Mar 1;56(2):160-8. doi: 10.1006/geno.1998.5704.