Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele

American Journal of Medical Genetics

Volumn 71, Issue 1, 1997, Pages 57-62

  Spritz, Richard A ^{a,b,c,d,e,f,g,h}   Bailin, Tu ^{a,b,c,d,e,f,g,h}   Nicholls, Robert D ^{a,b,c,d,e,f,g,h}   Lee, Seung Taek ^{a,b,c,d,e,f,g,h}   Park, Sang Kyw ^{a,b,c,d,e,f,g,h}   Mascari, Maria J ^{a,b,c,d,e,f,g,h}   Butler, Merlin G ^{a,b,c,d,e,f,g,h}  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Yonsei University   (South Korea)

^d PENN STATE COLLEGE OF MEDICINE   (United States)

^e VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^f MEDICAL COLLEGE OF GEORGIA   (United States)

^g Medical Genetics Resources Inc   (United States)

^h UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Angelman syndrome; Hypopigmentation; OCA2; Oeulocutaneous albinism; P gene; Prader willi syndrome

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL ARTICLE; GENETIC POLYMORPHISM; HAPLOTYPE; HEMIZYGOSITY; HUMAN; HYPOPIGMENTATION; OCULOCUTANEOUS ALBINISM; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SKIN DISCOLORATION;

ALLELES; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; GENE DELETION; HAPLOIDY; HUMANS; HYPOPIGMENTATION; MONOPHENOL MONOOXYGENASE; PHENOTYPE; POLYMORPHISM, GENETIC; PRADER-WILLI SYNDROME;

EID: 0030922598     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Butler MG (1989): Hypopigmentation: A common feature of PraderLabhart-Willi .syndrome. Am J Hum Genet 45:140-146.
2. Butler MG (1990): Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet 35:319-332.
3. Butler MG, Meaney FJ, Palmer CG (1986): Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 23:793-809.
4. Butler MG, Dahir GA, Schwartz HS (1993): Molecular analysis of transforming growth factor beta in giant cell tumor of bone. Cancer Genet Cytogenet 66:108-112.
5. Butler MG, Christian SL, Kubota T, Ledbetter DH (1996): A 5-yeur-old white girl with Prader-¥/illi syndrome and a submicroscopic deletion of chromosome 15qllql3. Am J Med Genet 65:137-141.
6. Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Naüao M, Surti U, Chakravarti A, LoubettL-r DH (1995): Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 57:40-48.
7. Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH (1994): African origin of an intragenic deletion of the human P gene in tyrosinase positive ocuiocutaneous albinism. Nat Genet 7:176-179.
8. Fryburg JS, Breg WK, Lindgren V (1991): Diagnosis of Angelman syndrome in infants. Am J Med Genet 38:58-04.
9. Fukai K, Holmes SA, Lucchese KJ, Siu VM. Welener RG, Schnur RE, Spritz SA (1995): Autosomal recessive ocular albinism associated witn a functionally significant tyrosinase gene polymorphism. Nat Genet 9:92-95.
10. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F >1993) Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 91:398-402.
11. Johnson DK. Stubbs LJ, Culiat CT, Montgomery CS, Russell L3, Rinchik EM (1995): Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus. Genetics 141:1563-1571.
12. King RA. Wiesner GL, Townsend D, White JG (1993>: Hypopigmentation in Angelman syndrome. Am J Med Genet 46:40-44.
13. Kogan SC, Gitschier J (1990): Genetic prediction of hemophilia A. In Innis MA, Gelfand DH, Sninsky JJ, White TJ ieds'.: PCfi Protocols.' San Diego: Academic Press, pp 288-299.
14. LaSallc JM. Laandc M (1996): Homologous association of oppositely imprinted chromosomal domains. Scioncc 272:725-728.
15. Lee S-T, Xichclls RD, Schnur R£, Guida LC, Lu-Kuo J, Spinner KB, Zackai EH, Spritz ilA (1994a): Diverse mutations of the P gene among AfricanAmericans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Molec Genet 3:2047-2051.
16. Lee S-T, Nicholls RD, Bunduj S, Laxova R; Musarella M, Spritz RA il994b): Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Vvilii syndrome plus albinism. New Engl J Med 330:529-534.
17. Lee S-T, Nicholls RD, Jong MTC, Fukai K, Spritz RA (1995a): Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomlcs 26:354-363.
18. Lee S-T, Park S-K, Lee K-H, Holmes SA, Spritz RA (19956): A nonradioactive method for simultaneous detection of single-strand conformation polymorphisms iSSCPs) and heteroduplexes. Moiec Cell 5:668-672.
19. Lyon MF, Searle AG (1989): Genetic Variants and Strains of the Laboratory Mouse. Oxford: Oxford University Press.
20. Malcolm S, Donlon TA (1994): Report of the second international workshop on human chromosome 15 mapping. Cytogenet Cell Genet 67:2-14.
21. Mascari MJ, Gottlieb W, Rogan P, Butler MG, Waller D'Armour J, Jeffreys A, Ladda R, Nicholls RD (1992): The frequency of uniparental disomy in Prader-WiHi syndrome: Implications for molecular diagnosis. N Engl J Med 326:1599-1307.
22. Mbikay M, Linard CG, Sirois F, Zazure C, Seidah NG, Chrétien M (19SS): Tissue-specific expression of the prostatic secretory protein PSP94 in cyanomologous monkey (Macacca fascicularis) Cell Biol 34:387-398.
23. Nicholls RD, Knoll JH, Glatt K, Heran JH, Brewster TD, Graham JM Jr., Wurster-Hill D, Wharton R, Latt SA (1989): Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogeneticd and the Prader-Willi syndrome. Am J Med Genet 33:6677.
24. Nicholls RD (19931; Genornic imprinting and uniparental disomy in Angeiman and Prader-Willi syndromes: A revievJ. Am J Mod Genet 46:16-25.
25. Ramsay M, Coiman M-A, Stevens G, Zwane E, Kromberg J, Farrall M, e,'enkms T (1992): The tyrosinase-positive ocuiocutnaeous albinism locus maps to chromosome 15qll.2-ql2. Am J Hum Genet 51:879-884.
26. Rinchik EM, Bultman SJ, Horsthemke B, Lee S-T. Strunk KM, Spritz RA, Avidano KM, Jong MTC, Nicholls RD (1993): A gene for the mouse pink-eyod dilution locus and for human type II oculocutanuous albinism. Nature 361:72-76.
27. Spritz RA, Fukai K, Holmes SA, Luande J (1995): Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocuîaneous albinism (OCA2X Am J Hum Genet 56:1320-1323.
28. Stevens G, van Beukering J, Jenkins T, Ramsay M (1995): An intragunic deletion of the P gene is the common mutation causing tyrosiriasepositive ocuiocutaneous albinism in southern African negroids. Am J Hum Genet 56:588-591.
29. Tantravahi U, Nicholls 3D, Stroh H, Ringer S, Neve RL, Kaplan L, Wharton R, Wurster-Hili D, Graham JM Jr., Cantu ES, Frias JL, Kousseff 3G, Lati SA (19S9): Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Am J Med Genet 33:78-87.
30. Tripathi RK, Giebel LB, Strunk KM, Spritz RA (1991): A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. Gene Expression 1:103-110.
31. Wagner-Mascari M (1-991): Molecular Diagnosis of Prader-Willi Syndrome. Ph.D. thesis, Pennsylvania State University.
32. Waliis CE. Beighlün PH (1989): Synchrony of oculoculaneous albinism, the Prader-Willi syndrome, and a normal karyotypc. J Med Genet 26:337-339.
33. Wie.sner Gl., Bendel CM, Olds DP, White ,JG, Arthur DC, Ball DW, King RA (1987): Hypopigmentation in the Prader-Willi syndrome. Am J Hum Genet 40:431-442.