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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.

human molecular genetics

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