Assignment of the mouse desmin gene to chromosome 1 band C3

Li, Zhenlin; Matteï, Marie‐Geneviève; Mattéi, Jean-François; Paulin, Denise

doi:10.1017/s0016672300025337

Cited by 13 publications

(2 citation statements)

References 39 publications

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“…The desmin gene has been mapped to chromosome 2 (band q35) in human ( Viegas‐Pequignot et al . 1989 ) and to chromosome 1 (band C3) in mouse ( Li et al . 1990 ).…”

Section: Desmin and Other Intermediate Filament Proteins In Mature Skmentioning

confidence: 99%

Desmin‐related myopathies in mice and man

Carlsson

Thornell

2001

Acta Physiologica Scandinavica

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Desmin, the main intermediate filament (IF) protein in skeletal and heart muscle cells, is of great importance as a part of the cytoskeleton. The IFs surround and interlink myofibrils, and connect the peripheral myofibrils with the sarcolemma. In myotendinous junctions and neuromuscular junctions of skeletal muscle fibres, desmin is enriched. In the heart, desmin is increased at intercalated discs, the attachment between cardiomyocytes, and it is the main component in Purkinje fibres of the conduction system. Desmin is the first muscle-specific protein to appear during myogenesis. Nevertheless, lack of desmin, as shown from experiments with desmin knockout (K/O) mice, does not influence myogenesis or myofibrillogenesis. However, the desmin knock-out mice postnatally develop a cardiomyopathy and a muscle dystrophy in highly used skeletal muscles. In other skeletal muscles the organization of myofibrils is remarkably unaffected. Thus, the main consequence of the lack of desmin is that the muscle fibres become more susceptible to damage. The loss of membrane integrity leads to a dystrophic process, with degeneration and fibrosis. In the heart cardiac failure develops, whereas in affected skeletal muscles regenerative attempts are seen. In humans, accumulations of desmin have been a hallmark for presumptive desmin myopathies. Recent investigations have shown that some families with such a myopathy have a defect in the gene coding for alphaB-crystallin, whereas others have mutations in the desmin gene. Typical features of these patients are cardiac affections and muscle weakness. Thus, mutations in the desmin gene is pathogenic for a distinct type of muscle disorder.

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“…The desmin gene has been mapped to chromosome 2 (band q35) in human ( Viegas‐Pequignot et al . 1989 ) and to chromosome 1 (band C3) in mouse ( Li et al . 1990 ).…”

Section: Desmin and Other Intermediate Filament Proteins In Mature Skmentioning

confidence: 99%

Desmin‐related myopathies in mice and man

Carlsson

Thornell

2001

Acta Physiologica Scandinavica

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“…Chromosomal localization of several IF genes has already been achieved both in mouse and in man: the vimentin gene is located in region A2 of mouse chromosome 2 (Mattei et al 1989 a) and on human chromosome 10 (Quax et al 1985); the desmin gene has been localized on mouse chromosome 1 band C3 (Li et al 1990) and on human chromosome 2 (Quax et al 1985) band 2q35 (Viegas-Pequignot et al 1989); the NF-L gene has been assigned to mouse chromosome 14 in the region Dl-El (Mattei et al 19896) and to human chromosome 8 band p21 (Hurst et al 1987); interestingly, the NF-M gene has also been mapped to the same region as NF-L on human chromosome 8 (Hurst et al 1987); the NF-H gene is located on mouse chromosome 11 ) and on human chromosomes 22 and 1 (Lieberburg et al 1989;Mattei et al 1988). As for peripherin, its gene, Prph, has been mapped to the mouse chromosome 15 by the technique of somatic cell hybrids (Pendleton et al 1991).…”

Section: Introductionmentioning

confidence: 99%

Chromosomal localisation of the mouse and human peripherin genes

et al. 1992

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Using a mouse cDNA probe encoding for the major part of peripherin, a type III intermediate filament protein, we have assigned, by in situ hybridization, the mouse and human peripherin genes, Prph, to the E-F region of chromosome 15 and to the ql2-ql3 region of chromosome 12, respectively. These regions are known as homologous chromosomal segments containing other intermediate filament genes (keratins) and also other genes which could be co-ordinately regulated.

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Muscle-Specific Locus Control Region Activity Associated with the Human Desmin Gene

Raguz

Hobbs

Yagüe

et al. 1998

Developmental Biology

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We describe the reproduction of the full pattern of expression of the muscle-specific desmin gene in transgenic mice using a 240-kb genomic clone spanning the human desmin locus. Analysis of RNA from adult tissues demonstrated that this fragment possesses all the necessary genetic regulatory elements required to provide reproducible, site-of-integration-independent, physiological levels of tissue-specific expression that is directly proportional to transgene copy number in all muscle cell types. In situ hybridization revealed that in marked contrast to murine desmin which is strongly expressed in the myotome of the somites, skeletal muscles, the heart, and smooth muscle of the vasculature by 9.5 days postcoitum, human desmin transgene expression was completely absent from smooth muscles, was very weak and restricted to the atrium and outflow tract within the heart, and was expressed at only 5% of murine desmin mRNA levels within the myotome of the somites. The spatial distribution and levels of human and mouse desmin expression were not coincident until 14.5 days postcoitum. Immunohistochemical analysis of human embryos at comparable stages of development showed that this transgene faithfully reproduces the human and not the mouse developmental expression pattern for this gene in transgenic mice. These results indicate that the 240-kb desmin genomic clone is capable of establishing an independent, chromatin domain in transgenic mice and provides the first definitive data for muscle-specific locus control region activity. In addition, our results demonstrate that the behavior of human transgenes in mice should, whenever possible, be compared to expression patterns for that gene in human embryonic as well as adult tissues.

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Assignment of the mouse desmin gene to chromosome 1 band C3

Cited by 13 publications

References 39 publications

Desmin‐related myopathies in mice and man

Desmin‐related myopathies in mice and man

Chromosomal localisation of the mouse and human peripherin genes

Muscle-Specific Locus Control Region Activity Associated with the Human Desmin Gene

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