TSRC1, a widely expressed gene containing seven thrombospondin type I repeats

被引:24
作者
Buchner, DA [1 ]
Meisler, MH [1 ]
机构
[1] Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA
基金
美国国家卫生研究院;
关键词
TSR; 1q21; ADAMTS; ADAM15; gene evolution; sodium channel modifier; SNP; inversion;
D O I
10.1016/S0378-1119(03)00423-2
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The thrombospondin type I repeat domain is found in nearly 100 mammalian proteins with diverse biological functions that include cellular adhesion, angiogenesis, and patterning of the developing nervous system. We have characterized a novel thrombospondin type 1 repeat containing gene, TSRC1, encoding a predicted protein with seven thrombospondin repeats, six of which are clustered at the C-terminus. The 17 coding exons and two nontranslated exons of TSRC1 span 10 kb of genomic DNA. The human and mouse genes encode proteins of 1074 and 1036 amino acids, respectively, with 76% amino acid sequence identity. Thirty of the extra amino acids in the human protein are encoded by exon 6. Mouse Tsrc I is expressed in all fetal and adult tissues tested. Three conserved noncoding sequence elements with potential regulatory function are located in intron 1. Mouse Tsrc1 was genetically mapped to chromosome 3 within the nonrecombinant region for the sodium channel modifier locus Scnm1. The sensitive and resistant alleles of Scnm1 did not differ in Tsrc1 protein sequence, transcript length, or transcript abundance. Human TSRC1 is located on chromosome 1q21 within an 11.7 Mb segment of conserved synteny. TSRC1 and the closely linked gene ADAM15 appear to be derived by a chromosomal inversion that interrupted an ancestral ADAMTS gene. (C) 2003 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:23 / 30
页数:8
相关论文
共 32 条
[1]  
Adams JC, 2000, DEV DYNAM, V218, P280
[2]  
Bateman A, 2004, NUCLEIC ACIDS RES, V32, pD138, DOI [10.1093/nar/gkp985, 10.1093/nar/gkh121, 10.1093/nar/gkr1065]
[3]   Sodium channel Nav1.6 is localized at nodes of Ranvier, dendrites, and synapses [J].
Caldwell, JH ;
Schaller, KL ;
Lasher, RS ;
Peles, E ;
Levinson, SR .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (10) :5616-5620
[4]   Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene [J].
Colige, A ;
Sieron, AL ;
Li, SW ;
Schwarze, U ;
Petty, E ;
Wertelecki, W ;
Wilcox, W ;
Krakow, D ;
Cohn, DH ;
Reardon, W ;
Byers, PH ;
Lapière, CM ;
Prockop, DJ ;
Nusgens, BV .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) :308-317
[5]   CD36 mediates the in vitro inhibitory effects of thrombospondin-1 on endothelial cells [J].
Dawson, DW ;
Pearce, SFA ;
Zhong, RQ ;
Silverstein, RL ;
Frazier, WA ;
Bouck, NP .
JOURNAL OF CELL BIOLOGY, 1997, 138 (03) :707-717
[6]   C-mannosylation and O-fucosylation of thrombospondin type 1 repeats [J].
de Peredo, AG ;
Klein, D ;
Macek, B ;
Hess, D ;
Peter-Katalinic, J ;
Hofsteenge, J .
MOLECULAR & CELLULAR PROTEOMICS, 2002, 1 (01) :11-18
[7]  
El-Bitar F, 2001, CELL TISSUE RES, V304, P361
[8]   A physical map of the mouse genome [J].
Gregory, SG ;
Sekhon, M ;
Schein, J ;
Zhao, SY ;
Osoegawa, K ;
Scott, CE ;
Evans, RS ;
Burridge, PW ;
Cox, TV ;
Fox, CA ;
Hutton, RD ;
Mullenger, IR ;
Phillips, KJ ;
Smith, J ;
Stalker, J ;
Threadgold, GJ ;
Birney, E ;
Wylie, K ;
Chinwalla, A ;
Wallis, J ;
Hillier, L ;
Carter, J ;
Gaige, T ;
Jaeger, S ;
Kremitzki, C ;
Layman, D ;
Maas, J ;
McGrane, R ;
Mead, K ;
Walker, R ;
Jones, S ;
Smith, M ;
Asano, J ;
Bosdet, I ;
Chan, S ;
Chittaranjan, S ;
Chiu, R ;
Fjell, C ;
Fuhrmann, D ;
Girn, N ;
Gray, C ;
Guin, R ;
Hsiao, L ;
Krzywinski, M ;
Kutsche, R ;
Lee, SS ;
Mathewson, C ;
McLeavy, C ;
Messervier, S ;
Ness, S .
NATURE, 2002, 418 (6899) :743-U3
[9]  
Guo NH, 2000, CANCER RES, V60, P457
[10]   C-mannosylation and O-fucosylation of the thrombospondin type 1 module [J].
Hofsteenge, J ;
Huwiler, KG ;
Macek, B ;
Hess, D ;
Lawler, J ;
Mosher, DF ;
Peter-Katalinic, J .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (09) :6485-6498