Imprinting mutations on human chromosome 15

Human Mutation

Volumn 10, Issue 5, 1997, Pages 329-337

  Horsthemke, Bernhard ^a   Dittrich, Bärbel ^a   Buiting, Karin ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Genomic imprinting; Germline; Postzygotic development

Indexed keywords

CHROMOSOME 15; CLINICAL FEATURE; EMBRYO DEVELOPMENT; GENE EXPRESSION REGULATION; GENE MUTATION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; INHERITANCE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVIEW;

CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MUTATION;

EID: 0030833487     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:5<329::AID-HUMU1>3.0.CO;2-A     Document Type: Review

References (8)

1. Angelman H (1965) "Puppet children": a report of three cases. Dev Med Child Neurol 7:681-683.
2. Barlow DP (1995) Gametic imprinting in mammals. Science 270:1610-1613.
3. Brink RA (1973) Paramutation. Annu Rev Genet 7:129-152.
4. Brockdorff N, Ashworth A, Kay GH, McCabe VM, Norris DR Cooper PJ, Swift S, Rastan S (1992) The product of the mouse Xist gene is a 15-kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. Cell 71:515-526.
5. Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B (1994) Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and ist diagnostic implications. Hum Mol Genet 3:893-895.
6. Buiting K, Saitoh S, Gross S, Dittrich 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. Nature Genet 9:395-400.
7. Bürger J, Buiting K, Dittrich B, Groß S, Lich C, Sperling K, Horsthemke B, Reis A (1997) Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am J Hum Genet 61:88-93.
8. Cattanach BM, Barr J, Jones J (1995) Use of chromosome rearrangements for investigations into imprinting in the mouse. In Ohlsson R, Hall K, Ritzen M (eds): "Genomic Imprinting-Causes and Consequences." Cambridge University Press, Cambridge, pp 327-341.