Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive
2008; Wiley; Volume: 146A; Issue: 11 Linguagem: Inglês
10.1002/ajmg.a.32321
ISSN1552-4833
AutoresPei‐Wen Chiang, Elaine Spector, Anne Chun‐Hui Tsai,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoAmerican Journal of Medical Genetics Part AVolume 146A, Issue 11 p. 1493-1496 Research Letter Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive† Pei-Wen Chiang, Pei-Wen Chiang UCHSC DNA Diagnostic Laboratory, Department of Pediatrics, UCDHSC, Aurora, ColoradoSearch for more papers by this authorElaine Spector, Elaine Spector UCHSC DNA Diagnostic Laboratory, Department of Pediatrics, UCDHSC, Aurora, ColoradoSearch for more papers by this authorAnne Chun-Hui Tsai, Corresponding Author Anne Chun-Hui Tsai [email protected] The Children's Hospital, UCDHSC, Aurora, ColoradoThe Children's Hospital, UCDHSC, Aurora, CO.Search for more papers by this author Pei-Wen Chiang, Pei-Wen Chiang UCHSC DNA Diagnostic Laboratory, Department of Pediatrics, UCDHSC, Aurora, ColoradoSearch for more papers by this authorElaine Spector, Elaine Spector UCHSC DNA Diagnostic Laboratory, Department of Pediatrics, UCDHSC, Aurora, ColoradoSearch for more papers by this authorAnne Chun-Hui Tsai, Corresponding Author Anne Chun-Hui Tsai [email protected] The Children's Hospital, UCDHSC, Aurora, ColoradoThe Children's Hospital, UCDHSC, Aurora, CO.Search for more papers by this author First published: 30 April 2008 https://doi.org/10.1002/ajmg.a.32321Citations: 10 † How to cite this article: Chiang P-W, Spector E, Tsai AC-H. 2008. Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. Am J Med Genet Part A 146A:1493–1496. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Butler MG. 1989. Hypopigmentation: A common feature of Prader–Labhart–Willi syndrome. Am J Hum Genet 45: 140–146. 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. Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, Koiffmann CP. 2003. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am J Med Genet Part A 119A: 180–183. Fryburg JS, Breg WR, Lindgren V. 1991. Diagnosis of Angelman syndrome in infants. Am J Med Genet 38: 58–64. Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH. 1992. The mouse pink-eyed dilution gene: Association with human Prader–Willi and Angelman syndromes. Science 257: 1121–1124. King RA, Oetting WS. 2007. Oculocutaneous Albinism Type 2: In GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2007. Available at http://www.genetests.org. King RA, Wiesner GL, Townsend D, White JG. 1993. Hypopigmentation in Angelman syndrome. Am J Med Genet 46: 40–44. Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA. 1995. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26: 354–363. Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M. 1997. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet 61: 1095–1101. Nicholls RD. 1993. Genomic imprinting and uniparental disomy in Angelman and Prader–Willi syndromes: A review. Am J Med Genet 46: 16–25. Oetting WS, Garrett SS, Brott M, King RA. 2005. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat 25: 323–329. Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MT, Nicholls RD. 1993. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361: 72–76. Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. 1996. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 33: 107–112. Spritz RA, Fukai K, Holmes SA, Luande J. 1995. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet 56: 1320–1323. Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, Butler MG. 1997. Hypopigmentation in the Prader–Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet 71: 57–62. Stevens G, van Beukering J, Jenkins T, Ramsay M. 1995. An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. Am J Hum Genet 56: 586–591. Wallace ME. 1953. A case of mutual reduction of dominance: Observed in Mus musculus. Heredity 7: 435–437. Wiesner 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. Citing Literature Volume146A, Issue111 June 2008Pages 1493-1496 ReferencesRelatedInformation
Referência(s)