PMID- 10607831
OWN - NLM
STAT- MEDLINE
DCOM- 20000228
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 9
IP  - 2
DP  - 2000 Jan 22
TI  - Identification and characterization of MTR1, a novel gene with homology to
      melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region
      on chromosome 11p15.5 and showing allele-specific expression.
PG  - 203-16
AB  - Alterations within human chromosomal region 11p15.5 are associated with the
      Beckwith-Wiedemann syndrome (BWS) and predisposition to a variety of neoplasias, 
      including Wilms' tumors (WTs), rhabdoid tumors and rhabdomyosarcomas. To identify
      candidate genes for 11p15. 5-related diseases we compared human genomic sequence 
      with expressed sequence tag and protein databases from different organisms to
      discover evolutionarily conserved sequences. Herein we describe the
      identification and characterization of a novel human transcript related to a
      putative Caenorhabditis elegans protein and the trp (transient receptor
      potential) gene. The highest homologies are observed with the human TRPC7 and
      with melastatin 1 ( MLSN1 ), whose transcript is downregulated in metastatic
      melanomas. Other genes related to and interacting with the trp family include the
      Grc gene, which codes for a growth factor-regulated channel protein, and
      PKD1/PKD2, involved in polycystic kidney disease. The novel gene presented here
      (named MTR1 for MLSN1 - and TRP -related gene 1) resides between TSSC4 and
      KvLQT1. MTR1 is expressed as a 4.5 kb transcript in a variety of fetal and adult 
      tissues. The putative open reading frame is encoded in 24 exons, one of which is 
      alternatively spliced leading to two possible proteins of 872 or 1165 amino acids
      with several predicted membrane-spanning domains in both versions. MTR1
      transcripts are present in a large proportion of WTs and rhabdomyosarcomas.
      RT-PCR analysis of somatic cell hybrids harboring a single human chromosome 11
      demonstrated exclusive expression of MTR1 in cell lines carrying a paternal
      chromosome 11, indicating allele-specific inactivation of the maternal copy by
      genomic imprinting.
FAU - Prawitt, D
AU  - Prawitt D
AD  - Children's Hospital, University of Mainz, Langenbeckstrasse 1, D-55101 Mainz,
      Germany. prawitt@wserv.kinder.klinik.uni-mainz.de
FAU - Enklaar, T
AU  - Enklaar T
FAU - Klemm, G
AU  - Klemm G
FAU - Gartner, B
AU  - Gartner B
FAU - Spangenberg, C
AU  - Spangenberg C
FAU - Winterpacht, A
AU  - Winterpacht A
FAU - Higgins, M
AU  - Higgins M
FAU - Pelletier, J
AU  - Pelletier J
FAU - Zabel, B
AU  - Zabel B
LA  - eng
SI  - GENBANK/AF177473
GR  - CA63333/CA/NCI 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  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (Drosophila Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (RNA, Neoplasm)
RN  - 0 (TRPM Cation Channels)
RN  - 0 (TRPM1 protein, human)
RN  - 0 (TRPM5 protein, human)
RN  - 0 (Transient Receptor Potential Channels)
RN  - 0 (trpl protein, Drosophila)
SB  - IM
MH  - Adult
MH  - *Alleles
MH  - Alternative Splicing/genetics
MH  - Amino Acid Sequence/genetics
MH  - Base Sequence
MH  - Beckwith-Wiedemann Syndrome/*genetics
MH  - Calmodulin-Binding Proteins/*genetics
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Conserved Sequence
MH  - *Drosophila Proteins
MH  - Evolution, Molecular
MH  - *Genes, Wilms Tumor
MH  - Humans
MH  - Infant
MH  - Male
MH  - Membrane Proteins/biosynthesis/chemistry/*genetics
MH  - Molecular Sequence Data
MH  - *Neoplasm Proteins
MH  - RNA, Neoplasm/biosynthesis
MH  - Rhabdomyosarcoma/genetics
MH  - *Sequence Homology, Amino Acid
MH  - TRPM Cation Channels
MH  - Transient Receptor Potential Channels
MH  - Translocation, Genetic/genetics
MH  - Tumor Cells, Cultured
EDAT- 1999/12/23 09:00
MHDA- 2000/03/04 09:00
CRDT- 1999/12/23 09:00
PHST- 1999/12/23 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 1999/12/23 09:00 [entrez]
AID - ddd029 [pii]
AID - 10.1093/hmg/9.2.203 [doi]
PST - ppublish
SO  - Hum Mol Genet. 2000 Jan 22;9(2):203-16. doi: 10.1093/hmg/9.2.203.