Prader-Willi syndrome is caused by disruption of the SNRPN gene

American Journal of Human Genetics

Volumn 64, Issue 1, 1999, Pages 70-76

  Kuslich, C D ^a,f   Kobori, J A ^b   Mohapatra, G ^c   Gregorio King, C ^a,g   Donlon, T A ^a,d,e  

^a Kapiolani Health Research Institute   (United States)

^b KAISER PERMANENTE MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF HAWAII   (United States)

^e Ohana Genetics   (United States)

^f DEAKIN UNIVERSITY   (Australia)

^g UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 4Q; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; EXON; GENE DISRUPTION; GENE LOCUS; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MALE; METHYLATION; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

EID: 0033364338     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302177     Document Type: Article

References (16)

1. Buiting K, Saitoh S, Gross S, Dietrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400
2. Butler MG, Palmer CG (1983) Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1:1285-1286
3. Cassidy SB, Geer JS, Hudgins L (1996) African-Americans with Prader-Willi syndrome are phenotypically different. Am J Hum Genet Suppl 59:A21
4. Chu G, Volrath D, Davis RW (1986) Separation of large DNA molecules by contour-clamped homogeneous electric fields. Science 234:1582-1585
5. Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, et al (1997) Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. Am J Hum Genet 61:388-394
6. Dittrich B, Buiting K, Groß, Horsthemke B (1993) Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet 2:1995-1999
7. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, et al (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170
8. Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA (1986) Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci USA 83:4408-4412
9. Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, et al (1997) Current protocols in human genetics. John Wiley & Sons, New York
10. Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, et al (1993a) Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 2:1377-1382
11. Glenn CC, Porter KA, Jong MTC, Nicholls RD, Driscoll DJ (1993b) Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2:2001-2005
12. Glenn CC, Saitoh S, Jong MTC, Filbrandt MM, Surti U, Driscoll, DJ, Nicholls RD (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 58:335-346
13. Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG (1996) Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum Mol Genet 5:517-524
14. Sutcliffe JS, Nakao M, Christian S, Örstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58
15. Wevrick R, Kerns JA, Francke U (1994) Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet 3:1877-1882
16. Yunis JJ, Chandler ME (1977) High-resolution chromosome analysis in clinical medicine. Prog Clin Pathol 7:267-288