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Gene Review:

MHS2 - malignant hyperthermia susceptibility 2

Homo sapiens

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Disease relevance of MHS2

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect [1].
We studied such methylation, as well as hMHS2 expression in colorectal cancers from AA patients to determine if MSI is associated with epigenetic silencing [2].

High impact information on MHS2

Immunohistochemistry was evaluated on formalin-fixed paraffin-embedded tissue for hMLH1, hMHS2 and hMSH6 [3].
Furthermore, we provide preliminary linkage data suggesting the localization of a gene in human MHS to 17q11.2-q24 (MHS2), with a gene frequency of this putative locus approximately equal to that of the MHS1 locus on 19q [4].
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q [4].
Examination of the promoter region of hMHS2 revealed a site with homology to the p53 consensus binding sequence [5].
Of 8 CPH patients, 5 showed missense mutations only in MHS2 [6].

References

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Sudbrak, R., Golla, A., Hogan, K., Powers, P., Gregg, R., Du Chesne, I., Lehmann-Horn, F., Deufel, T. Hum. Mol. Genet. (1993) [Pubmed]
Clinicopathological features and microsatellite instability (MSI) in colorectal cancers from African Americans. Ashktorab, H., Smoot, D.T., Farzanmehr, H., Fidelia-Lambert, M., Momen, B., Hylind, L., Iacosozio-Dononue, C., Carethers, J.M., Goel, A., Boland, C.R., Giardiello, F.M. Int. J. Cancer (2005) [Pubmed]
Mismatch repair protein expression and microsatellite instability: a comparison of clear cell sarcoma of soft parts and metastatic melanoma. Garcia, J.J., Kramer, M.J., O'Donnell, R.J., Horvai, A.E. Mod. Pathol. (2006) [Pubmed]
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Levitt, R.C., Olckers, A., Meyers, S., Fletcher, J.E., Rosenberg, H., Isaacs, H., Meyers, D.A. Genomics (1992) [Pubmed]
Specific in vitro binding of p53 to the promoter region of the human mismatch repair gene hMSH2. Scherer, S.J., Welter, C., Zang, K.D., Dooley, S. Biochem. Biophys. Res. Commun. (1996) [Pubmed]
Association of the core clustering mutations (codon 21-34) and the severity of chronic hepatitis B in Korean patients. Koh, K.C., Lee, H.S., Kim, C.Y. Korean J. Intern. Med. (1995) [Pubmed]

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