Literature DB >> 8307566

Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2.

M Müller-Seitz1, K Kaupmann, S Labeit, H Jockusch.   

Abstract

In the mouse, the genes for the structural components of the myofibril titin and nebulin, Ttn and Neb, map to proximal Chr 2, as does the gene for a muscle disease, "muscular dystrophy with myositis," mdm. To facilitate the evaluation of Ttn and Neb as possible candidates for mdm, we have determined their relative map positions, using a Mus spretus/Mus musculus interspecific backcross. The gene order (distances in cM) cenVim-16.9 +/- 4.7-Neb-7.6 +/- 3.0-Ttn, Acra-18.0 +/- 4.9-Pax-6-17.7 +/- 4.9-a ... has been determined. Considering the standard deviations, Neb, Ttn, and Acra could colocalize with mdm. Using Ttn and Neb probes, DNAs from mdm/mdm and mdm/+ mice were tested for restriction fragment variants in comparison to the M. musculus wildtype. No variants have been found with 11 restriction nucleases. Our data corroborate a conserved synteny comprising genes NEB, TTN, CHRNA1 on human Chr 2q.

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Year:  1993        PMID: 8307566     DOI: 10.1016/s0888-7543(05)80356-8

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  4 in total

Review 1.  Titin: physiological function and role in cardiomyopathy and failure.

Authors:  Henk Granzier; Yiming Wu; Labeit Siegfried; Martin LeWinter
Journal:  Heart Fail Rev       Date:  2005-09       Impact factor: 4.214

2.  Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Authors:  Peter Hackman; Anna Vihola; Henna Haravuori; Sylvie Marchand; Jaakko Sarparanta; Jerome De Seze; Siegfried Labeit; Christian Witt; Leena Peltonen; Isabelle Richard; Bjarne Udd
Journal:  Am J Hum Genet       Date:  2002-07-26       Impact factor: 11.025

3.  A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.

Authors:  T Weiler; C R Greenberg; T Zelinski; E Nylen; G Coghlan; M J Crumley; T M Fujiwara; K Morgan; K Wrogemann
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

Review 4.  N2A Titin: Signaling Hub and Mechanical Switch in Skeletal Muscle.

Authors:  Kiisa Nishikawa; Stan L Lindstedt; Anthony Hessel; Dhruv Mishra
Journal:  Int J Mol Sci       Date:  2020-06-01       Impact factor: 5.923

  4 in total

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