Human Molecular Genetics, 2000, Vol. 9, No. 2 203-216
© 2000 Oxford University Press
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
Children’s Hospital, University of Mainz, Langenbeckstrasse 1, D-55101 Mainz, Germany, 1Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY, USA and 2Department of Biochemistry and McGill Cancer Center, McGill University, Montreal, Canada
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.
+ To whom correspondance should be addressed. Tel: +49 6131 17 6826; Fax: +49 6131 17 5528; Email: prawitt@wserv.kinder.klinik.uni-mainz.de
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  W. Zhang, Q. Tong, K. Conrad, J. Wozney, J. Y. Cheung, and B. A. Miller Regulation of TRP channel TRPM2 by the tyrosine phosphatase PTPL1 Am J Physiol Cell Physiol, May 1, 2007; 292(5): C1746 - C1758. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. M. Algar, L. St. Heaps, A. Darmanian, V. Dagar, D. Prawitt, G. B. Peters, and F. Collins Paternally Inherited Submicroscopic Duplication at 11p15.5 Implicates Insulin-like Growth Factor II in Overgrowth and Wilms' Tumorigenesis Cancer Res., March 1, 2007; 67(5): 2360 - 2365. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Kiselyov, A. Soyombo, and S. Muallem TRPpathies J. Physiol., February 1, 2007; 578(3): 641 - 653. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. Nilius, G. Owsianik, T. Voets, and J. A. Peters Transient Receptor Potential Cation Channels in Disease Physiol Rev, January 1, 2007; 87(1): 165 - 217. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Gudermann and S. Roelle Calcium-dependent growth regulation of small cell lung cancer cells by neuropeptides Endocr. Relat. Cancer, December 1, 2006; 13(4): 1069 - 1084. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Q. Tong, W. Zhang, K. Conrad, K. Mostoller, J. Y. Cheung, B. Z. Peterson, and B. A. Miller Regulation of the Transient Receptor Potential Channel TRPM2 by the Ca2+ Sensor Calmodulin J. Biol. Chem., April 7, 2006; 281(14): 9076 - 9085. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Zhang, I. Hirschler-Laszkiewicz, Q. Tong, K. Conrad, S.-C. Sun, L. Penn, D. L. Barber, R. Stahl, D. J. Carey, J. Y. Cheung, et al. TRPM2 is an ion channel that modulates hematopoietic cell death through activation of caspases and PARP cleavage Am J Physiol Cell Physiol, April 1, 2006; 290(4): C1146 - C1159. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. Nilius, T. Voets, and J. Peters TRP Channels in Disease Sci. Signal., August 2, 2005; 2005(295): re8 - re8. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G Bidaux, M Roudbaraki, C Merle, A Crepin, P Delcourt, C Slomianny, S Thebault, J-L Bonnal, M Benahmed, F Cabon, et al. Evidence for specific TRPM8 expression in human prostate secretory epithelial cells: functional androgen receptor requirement Endocr. Relat. Cancer, June 1, 2005; 12(2): 367 - 382. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Montell The TRP Superfamily of Cation Channels Sci. Signal., February 22, 2005; 2005(272): re3 - re3. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Paulsen, T. Khare, C. Burgard, S. Tierling, and J. Walter Evolution of the Beckwith-Wiedemann syndrome region in vertebrates Genome Res., January 1, 2005; 15(1): 146 - 153. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Prawitt, M. K. Monteilh-Zoller, L. Brixel, C. Spangenberg, B. Zabel, A. Fleig, and R. Penner TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i PNAS, December 9, 2003; 100(25): 15166 - 15171. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Lee, J. Chen, L. Sun, S. Wu, K. R. Gray, A. Rich, M. Huang, J.-H. Lin, J. N. Feder, E. B. Janovitz, et al. Expression and Characterization of Human Transient Receptor Potential Melastatin 3 (hTRPM3) J. Biol. Chem., May 30, 2003; 278(23): 20890 - 20897. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Zhang, X. Chu, Q. Tong, J. Y. Cheung, K. Conrad, K. Masker, and B. A. Miller A Novel TRPM2 Isoform Inhibits Calcium Influx and Susceptibility to Cell Death J. Biol. Chem., April 25, 2003; 278(18): 16222 - 16229. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Strange From Genes to Integrative Physiology: Ion Channel and Transporter Biology in Caenorhabditis elegans Physiol Rev, April 1, 2003; 83(2): 377 - 415. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. KUMANOVICS, G. LEVIN, and P. BLOUNT Family ties of gated pores: evolution of the sensor module FASEB J, October 1, 2002; 16(12): 1623 - 1629. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
X.-Z. S. Xu, F. Moebius, D. L. Gill, and C. Montell Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform PNAS, September 4, 2001; (2001) 191360198. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Sano, K. Inamura, A. Miyake, S. Mochizuki, H. Yokoi, H. Matsushime, and K. Furuichi Immunocyte Ca2+ Influx System Mediated by LTRPC2 Science, August 17, 2001; 293(5533): 1327 - 1330. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. Lane, G. Hao, and S. S. Gross S-Nitrosylation Is Emerging as a Specific and Fundamental Posttranslational Protein Modification: Head-to-Head Comparison with O-Phosphorylation Sci. Signal., June 12, 2001; 2001(86): re1 - re1. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. M. Duncan, J. Deeds, F. E. Cronin, M. Donovan, A. J. Sober, M. Kauffman, and J. J. McCarthy Melastatin Expression and Prognosis in Cutaneous Malignant Melanoma J. Clin. Oncol., January 15, 2001; 19(2): 568 - 576. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Engemann, M. Strodicke, M. Paulsen, O. Franck, R. Reinhardt, N. Lane, W. Reik, and J. Walter Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting Hum. Mol. Genet., November 1, 2000; 9(18): 2691 - 2706. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S.-i. Horike, K. Mitsuya, M. Meguro, N. Kotobuki, A. Kashiwagi, T. Notsu, T. C. Schulz, Y. Shirayoshi, and M. Oshimura Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome Hum. Mol. Genet., September 1, 2000; 9(14): 2075 - 2083. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Paulsen, O. El-Maarri, S. Engemann, M. Strodicke, O. Franck, K. Davies, R. Reinhardt, W. Reik, and J. Walter Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse Hum. Mol. Genet., July 22, 2000; 9(12): 1829 - 1841. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
X.-Z. S. Xu, F. Moebius, D. L. Gill, and C. Montell Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform PNAS, September 11, 2001; 98(19): 10692 - 10697. [Abstract] [Full Text] [PDF]
|
|