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MKRN3  -  makorin ring finger protein 3

Homo sapiens

Synonyms: CPPB2, D15S9, MGC88288, RING finger protein 63, RNF63, ...
 
 
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Disease relevance of MKRN3

 

High impact information on MKRN3

  • Methylation studies showed normal biparental patterns of inheritance of loci DN34/ZNF127, D15S63, and SNRPN exon 1 [3].
  • To further characterize the deletion breakpoints proximal to D15S9, three new polymorphic microsatellite markers were developed that showed observed heterozygosities of 60%-87% [4].
  • D15S543 was isolated from a cosmid cloned from the proximal right end of YAC 254B5 containing the D15S9 (ML34) locus [4].
  • The results from this study show (a) two additional copies of proximal 15q loci, D15S9 through D15S12, in mentally retarded patients with an inv dup(15) but without AS or PWS and (b) no additional copies of these loci in patients with a normal phenotype or with PWS [5].
  • We describe a complex imprinted locus in chromosome 15q11-q13 that encodes two genes, ZNF127 and ZNF127AS [1].
 

Biological context of MKRN3

 

Other interactions of MKRN3

  • Consistent with this expression pattern, in the brain the ZNF127 5' CpG island is completely unmethylated on the paternal allele but methylated on the maternal allele [1].
  • By contrast, cells from the first individual expressed PAR5 and ZNF127, whereas the second expressed a single IPW allele [9].
  • The distal breakpoints appear to cluster between the P gene (OCA2) and D15S24, whereas two deletion breakpoint clusters have been identified on the proximal side (one centromeric to D15S541 and one between D15S541 and D15S9) [10].
  • Moreover, methylation studies of genomic imprinted loci D15S63, D15S9, and H19 have revealed hypomethylation to different degrees in both patients; this provides evidence for hypomethylation at autosomal single copy loci in ICFS [11].
 

Analytical, diagnostic and therapeutic context of MKRN3

  • Correct prenatal diagnoses were obtained in 24 out of 24 samples using the 5' SNRPN locus; 4 out of 15 using the ZNF127 locus; and 10 out of 18 using the PW71 locus [12].

References

  1. 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) [Pubmed]
  2. 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) [Pubmed]
  3. 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) [Pubmed]
  4. 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) [Pubmed]
  5. 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) [Pubmed]
  6. 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) [Pubmed]
  7. A BsaBI RFLP detected for probe pML34 [D15S9] on chromosome 15q. Hamabe, J., Saitoh, S., Niikawa, N. Nucleic Acids Res. (1991) [Pubmed]
  8. 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) [Pubmed]
  9. 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) [Pubmed]
  10. 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) [Pubmed]
  11. 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) [Pubmed]
  12. 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) [Pubmed]
 
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