The muscular dysgenesis mutation in mice leads to arrest of the genetic program for muscle differentiation

Nirupa Chaudhari, Kurt G. Beam

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Muscular dysgenesis (mdg) is a mutation in mice which causes the failure of excitation-contraction coupling in skeletal muscle. Although the sarcolemma, the sarcoplasmic reticulum, and the contractile apparatus all maintain nearly normal function, sarcolemmal depolarization fails to cause calcium release from the sarcoplasmic reticulum. Recently, the primary genetic defect in this mutation was shown to be located in the structural gene for the dihydro-pyridine receptor. We have examined the developmental expression from Fetal Day 15 onward, in normal and mutant muscle, of several unidentified genes as well as genes which are known markers of muscle differentiation. We find that the majority of mRNA sequences are found at similar concentrations in normal and dysgenic muscles at birth. Many differentiation-related genes also are expressed at normal levels early during myogenesis in mutant mice. However, as late fetal development progresses in dysgenic muscle, the mRNA concentrations for these genes fail to undergo the rapid rise which is characteristic of normal muscle. Several additional, unidentified genes, which normally would be down-regulated during development, remain expressed at a high level in dysgenic muscle. Thus, the primary absence of a functional dihydropyridine receptor appears to prevent the changes in gene expression which are necessary for maturation of skeletal muscle.

Original languageEnglish
Pages (from-to)456-467
Number of pages12
JournalDevelopmental Biology
Volume133
Issue number2
DOIs
StatePublished - Jan 1 1989
Externally publishedYes

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Muscles
Mutation
Genes
Sarcoplasmic Reticulum
Skeletal Muscle
Excitation Contraction Coupling
L-Type Calcium Channels
Sarcolemma
Messenger RNA
Muscle Development
Differentiation Antigens
Fetal Development
Parturition
Calcium
Gene Expression

ASJC Scopus subject areas

  • Developmental Biology

Cite this

The muscular dysgenesis mutation in mice leads to arrest of the genetic program for muscle differentiation. / Chaudhari, Nirupa; Beam, Kurt G.

In: Developmental Biology, Vol. 133, No. 2, 01.01.1989, p. 456-467.

Research output: Contribution to journalArticle

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