Gene Review:
MKRN3 - makorin ring finger protein 3
Homo sapiens
Synonyms:
CPPB2, D15S9, MGC88288, RING finger protein 63, RNF63, ...
- A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Jong, M.T., Gray, T.A., Ji, Y., Glenn, C.C., Saitoh, S., Driscoll, D.J., Nicholls, R.D. Hum. Mol. Genet. (1999)
- Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Reis, A., Dittrich, B., Greger, V., Buiting, K., Lalande, M., Gillessen-Kaesbach, G., Anvret, M., Horsthemke, B. Am. J. Hum. Genet. (1994)
- Prader-Willi syndrome is caused by disruption of the SNRPN gene. Kuslich, C.D., Kobori, J.A., Mohapatra, G., Gregorio-King, C., Donlon, T.A. Am. J. Hum. Genet. (1999)
- Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Christian, S.L., Robinson, W.P., Huang, B., Mutirangura, A., Line, M.R., Nakao, M., Surti, U., Chakravarti, A., Ledbetter, D.H. Am. J. Hum. Genet. (1995)
- Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Cheng, S.D., Spinner, N.B., Zackai, E.H., Knoll, J.H. Am. J. Hum. Genet. (1994)
- Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy. White, L.M., Rogan, P.K., Nicholls, R.D., Wu, B.L., Korf, B., Knoll, J.H. Am. J. Hum. Genet. (1996)
- A BsaBI RFLP detected for probe pML34 [D15S9] on chromosome 15q. Hamabe, J., Saitoh, S., Niikawa, N. Nucleic Acids Res. (1991)
- Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach. Malzac, P., Moncla, A., Voelckel, M.A., Livet, M.O., Girardot, L., Mattei, M.G., Mattei, J.F. Neuromuscul. Disord. (1993)
- Relaxation of imprinting in Prader-Willi syndrome. Rogan, P.K., Seip, J.R., White, L.M., Wenger, S.L., Steele, M.W., Sperling, M.A., Menon, R., Knoll, J.H. Hum. Genet. (1998)
- Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. Buiting, K., Gross, S., Ji, Y., Senger, G., Nicholls, R.D., Horsthemke, B. Cytogenet. Cell Genet. (1998)
- DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor. Schuffenhauer, S., Bartsch, O., Stumm, M., Buchholz, T., Petropoulou, T., Kraft, S., Belohradsky, B., Hinkel, G.K., Meitinger, T., Wegner, R.D. Hum. Genet. (1995)
- DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Glenn, C.C., Deng, G., Michaelis, R.C., Tarleton, J., Phelan, M.C., Surh, L., Yang, T.P., Driscoll, D.J. Prenat. Diagn. (2000)