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Gene Review

HYMAI  -  hydatidiform mole associated and imprinted...

Homo sapiens

 
 
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Disease relevance of HYMAI

 

High impact information on HYMAI

  • The inheritance pattern of this imprinted disorder implicates overexpression of one or both genes within the TNDM locus: ZAC, which encodes a proapoptotic zinc finger protein, and HYMAI, which encodes an untranslated mRNA [3].
  • Therefore, we propose that this DMR functions as the IC for the HYMAI/PLAGL1 domain [4].
  • In TNDM fibroblasts, the monoallelic expression of both ZAC and HYMAI is relaxed, providing strong supportive evidence that the presence of two unmethylated alleles of this locus is indeed associated with the inappropriate gene expression of neighbouring genes [1].
 

Biological context of HYMAI

  • We now report that a transgene carrying the human HYMAI/PLAGL1 DMR was methylated in the correct parent-origin-specific manner in mice and this was sufficient to confer imprinted expression from the transgene [4].
  • A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC [5].

References

  1. Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Mackay, D.J., Coupe, A.M., Shield, J.P., Storr, J.N., Temple, I.K., Robinson, D.O. Hum. Genet. (2002) [Pubmed]
  2. Transient neonatal diabetes, a disorder of imprinting. Temple, I.K., Shield, J.P. J. Med. Genet. (2002) [Pubmed]
  3. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. Ma, D., Shield, J.P., Dean, W., Leclerc, I., Knauf, C., Burcelin R, R., Rutter, G.A., Kelsey, G. J. Clin. Invest. (2004) [Pubmed]
  4. The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice. Arima, T., Yamasaki, K., John, R.M., Kato, K., Sakumi, K., Nakabeppu, Y., Wake, N., Kono, T. Genomics (2006) [Pubmed]
  5. A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC. Arima, T., Drewell, R.A., Oshimura, M., Wake, N., Surani, M.A. Genomics (2000) [Pubmed]
 
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