期刊
GENOMICS
卷 79, 期 2, 页码 146-149出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1006/geno.2002.6685
关键词
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资金
- NCI NIH HHS [CA34196] Funding Source: Medline
- NIAMS NIH HHS [R01 AR049043-03, R01 AR049043-01A1, R01 AR049043-02] Funding Source: Medline
- NINDS NIH HHS [NS38178, R01 NS038178-01, R01 NS038178-04, R01 NS038178-03, R01 NS038178-02] Funding Source: Medline
Muscular dystrophy with myositis (mdm) is a recessive mouse mutation that causes severe and progressive muscular degeneration. Here we report the identification of the mdm mutation as a complex rearrangement that includes a deletion and a LINE insertion in the titin (Ttn) gene. Mutant allele-specific splicing results in the deletion of 83 amino acids from the N2A region of TTN, a domain thought to bind calpain-3 (CAPN3), the product of the human limb-girdle muscular dystrophy type 2A (LGMD2A) gene. The Ttn(mdm) mutant mouse may serve as a model for human tibial muscular dystrophy, which maps to the TTN locus at 2q31 and shows a secondary reduction of CAPN3 similar to that observed in mdm skeletal muscle. This is the first demonstration that a mutation in Ttn is associated with muscular dystrophy and provides a novel animal model to test for functional interactions between TTN and CAPN3.
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