PMID- 10051407
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  - Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major 
      histocompatibility complex on chromosome 6p21.3.
PG  - 208-16
AB  - Palmitoyl-protein thioesterase-2 (PPT2) is a homolog of PPT1, the enzyme that is 
      deficient in the lysosomal storage disorder, infantile neuronal ceroid
      lipofuscinosis (NCL). As a first step toward determining whether mutations in the
      gene encoding PPT2 (PPT2) are associated with any of the molecularly
      uncharacterized forms of NCL, we report here the structure and chromosomal
      localization of human PPT2. PPT2 spans about 10 kb and is composed of nine exons.
      One major (2.0 kb) and two minor (7.0 and 2.8 kb) mRNAs are transcribed from the 
      gene, and the larger transcripts appear to be messenger RNAs in which PPT2 exons 
      are spliced into a downstream gene encoding a homolog of human latent
      transforming growth factor-beta binding protein (human LTBP). PPT2 is located in 
      the human major histocompatibility class III locus on chromosome 6p21.3, a
      position that rules out PPT2 as the causative gene in any of the NCLs at defined 
      chromosomal loci. No mutations were detected by SSCP analysis in a preliminary
      analysis of 12 subjects referred with a suspected diagnosis of infantile NCL who 
      had normal PPT activity. However, five single nucleotide polymorphisms were found
      in unrelated normal individuals. These polymorphisms (and a microsatellite
      discovered within PPT2) will aid in the further delineation of the possible role 
      of PPT2 in lysosomal storage disorders of unknown etiology.
CI  - Copyright 1999 Academic Press.
FAU - Soyombo, A A
AU  - Soyombo AA
AD  - Department of Internal Medicine and the Hamon Center for Therapeutic Oncology
      Research, University of Texas Southwestern Medical Center, Dallas, Texas
      75235-8593, USA.
FAU - Yi, W
AU  - Yi W
FAU - Hofmann, S L
AU  - Hofmann SL
LA  - eng
SI  - GENBANK/U89336
GR  - NS 36867/NS/NINDS NIH HHS/United States
PT  - Comparative Study
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 (Isoenzymes)
RN  - 0 (RNA, Messenger)
RN  - 9007-49-2 (DNA)
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.1.2.22 (palmitoyl-protein thioesterase)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - DNA/chemistry/genetics
MH  - Exons
MH  - Gene Expression
MH  - Genes/*genetics
MH  - Humans
MH  - Infant
MH  - Introns
MH  - Isoenzymes/genetics
MH  - Major Histocompatibility Complex/*genetics
MH  - Microsatellite Repeats
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Neuronal Ceroid-Lipofuscinoses/enzymology/genetics
MH  - Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - Promoter Regions, Genetic
MH  - RNA, Messenger/genetics/metabolism
MH  - Thiolester Hydrolases/*genetics
MH  - Tissue Distribution
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)95703-2 [pii]
AID - 10.1006/geno.1998.5703 [doi]
PST - ppublish
SO  - Genomics. 1999 Mar 1;56(2):208-16. doi: 10.1006/geno.1998.5703.