An STS from a cDNA located in the myotonic dystrophy region (DM) on human chromosome 19q13.3

Lennon, Gregory G.; Lamerdin, Jane E.; Lieuallen, Kim; Amemiya, Christopher T.; Aslanidis, Charalampos; Jong, Pieter J. de; Carrano, A.V.

doi:10.1093/hmg/1.3.217

Hum Mol Genet

1992

DOI: 10.1093/hmg/1.3.217

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An STS from a cDNA located in the myotonic dystrophy region (DM) on human chromosome 19q13.3

Gregory G. Lennon¹,

Jane E. Lamerdin²,

Kim Lieuallen³

et al.

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Cited by 4 publications

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New nucleotide sequence data on the EMBL File Server

1992

Nucl Acids Res

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Nucl. Acids Res. 17:5398-5398(1989). X15137 Acholeplasma laidlawii gene for tRNA-Trp Tanaka R., Muto A., Osawa S.; Nucl. Acids Res. 17:5842-5842(1989). X15508 Brassica juncea satellite DNA Reddy A.S., Srivastava V., Guha-Mukherjee S.; Nucl. Acids Res. 17:5849-5849(1989 Chicken c-myb oncogene DNA for exons 1-5 Dvorak M., Urbanek P., Bartunek P., Paces V., Vlach J., Pecenka V., Arnold L., Travnicek M.; Nucl. Acids

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New nucleotide sequence data on the EMBL File Server

1992

Nucl Acids Res

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Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

Ravnik‐Glavač

2000

Journal of Medical Genetics

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Skeletal muscle Na currents in mice heterozygous for Six5 deficiency

Mistry

Moorman

Reddy

et al. 2001

Physiological Genomics

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Myotonic dystrophy results from a trinucleotide repeat expansion between the myotonic dystrophy protein kinase gene (Dmpk), which encodes a serine-threonine protein kinase, and the Six5 gene, which encodes a homeodomain protein. The disease is characterized by late bursts of skeletal muscle Na channel openings, and this is recapitulated in Dmpk -/- and Dmpk +/- murine skeletal muscle. To test whether deficiency of the nearby Six5 gene also affected Na channel gating in murine skeletal muscle, we measured Na currents from cell-attached patches in Six5 +/- mice and age-matched wild-type and Dmpk +/- mice. Late bursts of Na channel activity were defined as an opening probability >10% measured from 10 to 110 ms after depolarization. There was no significant difference in the occurrence of late Na channel bursts in wild-type and Six5 +/- muscle, whereas in Dmpk +/- muscle there was greater than fivefold increase in late bursts (P < 0.001). Compared with wild-type mice, Na current amplitude was unchanged in Six5 +/- muscle, whereas in Dmpk +/- muscle it was 36% reduced (P < 0.05). Thus, since Six5 +/- mice do not exhibit the Na channel gating abnormality of Dmpk deficiency, we conclude that Six5 deficiency does not contribute to the Na channel gating abnormality seen in dystrophia myotonica patients.

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An STS from a cDNA located in the myotonic dystrophy region (DM) on human chromosome 19q13.3

Cited by 4 publications

References 0 publications

New nucleotide sequence data on the EMBL File Server

New nucleotide sequence data on the EMBL File Server

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

Skeletal muscle Na currents in mice heterozygous for Six5 deficiency

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