Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome

Chinese Medical Journal

Volumn 122, Issue 16, 2009, Pages 1867-1871

  Wang, Xia ^a   Yang, Jian ^a   Tao, Ai Lin ^a   Yang, Wen Lin ^a   Zhang, Hong Juan ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

Author keywords

ADULT syndrome; Mutation; p63 gene; Single nucleotide polymorphism

Indexed keywords

ALANINE; ARGININE; CYTIDINE; GLUTAMINE; GLYCINE; GUANOSINE; PROTEIN P63;

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; PROTEIN DNA BINDING; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 70349558029     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2009.16.006     Document Type: Article

References (20)

1. Priolo M, Silengo M, Lerone M, Ravazzolo R. Ectodermal dysplasias: not only 'skin' deep. Clin Genet 2000; 58: 415-430.
2. Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR, Bradley A. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 1999; 398: 708-713.
3. Panganiban G, Rubenstein JL. Developmental functions of the Distal-less/ Dlx homeobox genes. Development 2002; 129: 4371-4386.
4. van Bokhoven H, Jung M, Smits AP, van Beersum S, Ruschendorf F, van Steensel M, et al. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet 1999; 64: 538-546.
5. Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, et al. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet 2002; 11: 799-804.
6. Irwin MS, Kaelin WG. p53 family update: p73 and p63 develop their own identities. Cell Growth Differ 2001; 12: 337-349.
7. Yang A, Kaghad M, Wang Y, Gillett E, Fleming MD, Dötsch V, et al. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell 1998; 2: 305-316.
8. Chi SW, Ayed A, Arrowsmith CH. Solution structure of a conserved C-terminal domain of p73 with structural homology to the SAM domain. EMBO J 1999; 18: 4438-4445.
9. Qiao F, Bowie JU. The many faces of SAM. Sci STKE 2005; 2005(286): re7.
10. Yang A, Kaghad M, Caput D, McKeon F. On the shoulders of giants: p63, p73 and the rise of p53. Trends Genet 2002; 18: 90-95.
11. Kim CA, Bowie JU. SAM domains: uniform structure, diversity of function. Trends Biochem Sci 2003; 28: 625-628.
12. Ghioni P, Bolognese F, Duijf PH, Van Bokhoven H, Mantovani R, Guerrini L. Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains. Mol Cell Biol 2002; 22: 8659-8668.
13. Serber Z, Lai HC, Yang A, Ou HD, Sigal MS, Kelly AE, et al. A C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism. Mol Cell Biol 2002; 22: 8601-8611.
14. Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 1999; 398: 714-718.
15. Jacobs WB, Govoni G, Ho D, Atwal JK, Barnabe-Heider F, Keyes WM, et al. p63 is an essential proapoptotic protein during neural development. Neuron 2005; 48: 743-756.
16. Yang J, Zhang HJ, Yang WL, Chen GS, Tang ZW, Chen S, et al. Acro-dermato-ungual-lacrimal-tooth syndrome: case report. Chin Med J 2007; 120: 851-853.
17. Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 2000; 67: 59-66.
18. Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 1999; 99: 143-153.
19. Rinne T, Spadoni E, Kjaer KW, Cesare D, Larizza D, Kock M, et al. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet 2006; 14: 904-910.
20. Propping P, Zerres K. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am J Med Genet 1993; 45: 642-648.