Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A

被引：14

作者：

Mologni, L

Salmikangas, P

Fougerousse, F

Beckmann, JS

Carpén, O

机构：

[1] Univ Helsinki, Haartman Inst, Dept Pathol, FIN-00014 Helsinki, Finland

[2] Human Genome Res Ctr, URA CNRS 1922 Genethon, Evry, France

来源：

MECHANISMS OF DEVELOPMENT | 2001年 / 103卷 / 1-2期

基金：

芬兰科学院;

关键词：

myotilin; muscle; limb-girdle muscular dystrophy;

D O I：

10.1016/S0925-4773(01)00325-2

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We analyzed developmental expression of myotilin, a novel sarcomeric component mutated in limb-girdle muscular dystrophy 1A (LCMD1A). In situ hybridization and immunostaining of embryonic mouse tissues revealed expression of myotilin initially (E9-10) in heart, somites and neuroepithelium. At E13 myotilin was expressed in a variety of tissues, including the nervous system, lung, liver and kidney, but upon organ differentiation expression became more restricted. The level of expression during early development is comparable between mouse and human, indicating that the mouse may provide a model for further studying the functions of myotilin and the pathogenesis of LGMD1A. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

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收藏

页码：121 / 125

页数：5

相关论文

共 8 条

[1] Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31 [J].

Bartoloni, L ;

Horrigan, SK ;

Viles, KD ;

Gilchrist, JM ;

Stajich, JM ;

Vance, JM ;

Yamaoka, LH ;

Pericak-Vance, MA ;

Westbrook, CA ;

Speer, MC .

GENOMICS, 1998, 54 (02) :250-255

[2] Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development [J].

Fougerousse, F ;

Durand, M ;

Suel, L ;

Pourquié, O ;

Delezoide, AL ;

Romero, NB ;

Abitbol, M ;

Beckmann, JS .

GENOMICS, 1998, 48 (02) :145-156

[3] MYOGENESIS IN THE MOUSE EMBRYO - DIFFERENTIAL ONSET OF EXPRESSION OF MYOGENIC PROTEINS AND THE INVOLVEMENT OF TITIN IN MYOFIBRIL ASSEMBLY [J].

FURST, DO ;

OSBORN, M ;

WEBER, K .

JOURNAL OF CELL BIOLOGY, 1989, 109 (02) :517-527

[4] Myotilin is mutated in limb girdle muscular dystrophy 1A [J].

Hauser, MA ;

Horrigan, SK ;

Salmikangas, P ;

Torian, UM ;

Viles, KD ;

Dancel, R ;

Tim, RW ;

Taivainen, A ;

Bartoloni, L ;

Gilchrist, JM ;

Stajich, JM ;

Gaskell, PC ;

Gilbert, JR ;

Vance, JM ;

Pericak-Vance, MA ;

Carpen, O ;

Westbrook, CA ;

Speer, MC .

HUMAN MOLECULAR GENETICS, 2000, 9 (14) :2141-2147

[5] Characterization of palladin, a novel protein localized to stress fibers and cell adhesions [J].

Parast, MM ;

Otey, CA .

JOURNAL OF CELL BIOLOGY, 2000, 150 (03) :643-655

[6] Expression of the rat homologue of the Drosophila fat tumour suppressor gene [J].

Ponassi, M ;

Jacques, TS ;

Ciani, L ;

ffrench-Constant, C .

MECHANISMS OF DEVELOPMENT, 1999, 80 (02) :207-212

[7] Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy [J].

Salmikangas, P ;

Mykkänen, OM ;

Grönholm, M ;

Heiska, L ;

Kere, J ;

Carpén, O .

HUMAN MOLECULAR GENETICS, 1999, 8 (07) :1329-1336

[8] Indications for a novel muscular dystrophy pathway:: γ-filamin, the muscle-specific filamin isoform, interacts with myotilin [J].

van der Ven, PFM ;

Wiesner, S ;

Salmikangas, P ;

Auerbach, D ;

Himmel, M ;

Kempa, S ;

Hayess, K ;

Pacholsky, D ;

Taivainen, A ;

Schröder, R ;

Carpén, O ;

Fürst, DO .

JOURNAL OF CELL BIOLOGY, 2000, 151 (02) :235-247