Mutation in SAM Domain of TP63 is Associated With Nonsyndromic Cleft Lip and Palate and Cleft Palate

被引：12

作者：

Kantaputra, Piranit N. ^{[1
,2
,3
]}

Malaivijitnond, Sutti ^{[4
]}

Vieira, Alexandre R. ^{[5
]}

Heering, Jan ^{[6
,7
]}

Doetsch, Volker ^{[6
,7
]}

Khankasikum, Theerapong ^{[8
]}

Sripathomsawat, Warissara ^{[1
,2
,3
]}

机构：

[1] Chiang Mai Univ, Div Pediat Dent, Dept Orthodont & Pediat Dent, Chiang Mai 50200, Thailand

[2] Chiang Mai Univ, Fac Dent, Craniofacial Genet Lab, Chiang Mai 50200, Thailand

[3] Dentaland Clin, Chiang Mai, Thailand

[4] Nan Hosp, Dept Dent, Nan, Thailand

[5] Univ Pittsburgh, Sch Dent Med, Dept Oral Biol, Pittsburgh, PA USA

[6] Goethe Univ Frankfurt, Inst Biophys Chem, Frankfurt, Germany

[7] Goethe Univ Frankfurt, Ctr Biomol Magnet Resonance, Frankfurt, Germany

[8] Mae Sod Hosp, Dept Dent, Tak, Thailand

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 06期

关键词：

TP63; sterile alpha motif; mutation; sumoylation; SAM domain; orofacial cleft; ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome; Rapp-Hodgkin syndrome; EEC syndrome; HAY-WELLS-SYNDROME; EEC-SYNDROME; P63; GENE; PROTEIN; MECHANISM; SUMO1;

D O I：

10.1002/ajmg.a.34011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcriptional regulatory proteins which are involved in development and differentiation. Here, we report on a SAM domain mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate. (C) 2011 Wiley-Liss, Inc.

引用

页码：1432 / 1436

页数：5

共 23 条

[1] SUMO1 haploinsufficiency leads to cleft lip and palate [J].

Alkuraya, Fowzan S. ;

Saadi, Irfan ;

Lund, Jennifer J. ;

Turbe-Doan, Annick ;

Morton, Cynthia C. ;

Maas, Richard L. .

SCIENCE, 2006, 313 (5794) :1751-1751

[2] Structure and function in the p53 family [J].

Arrowsmith, CH .

CELL DEATH AND DIFFERENTIATION, 1999, 6 (12) :1169-1173

[3] The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia [J].

Braybrook, C ;

Doudney, K ;

Marçano, ACB ;

Arnason, A ;

Bjornsson, A ;

Patton, MA ;

Goodfellow, PJ ;

Moore, GE ;

Stanier, P .

NATURE GENETICS, 2001, 29 (02) :179-183

[4] Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome [J].

Celli, J ;

Duijf, P ;

Hamel, BCJ ;

Bamshad, M ;

Kramer, B ;

Smits, APT ;

Newbury-Ecob, R ;

Hennekam, RCM ;

Van Buggenhout, G ;

van Haeringen, B ;

Woods, CG ;

van Essen, AJ ;

de Waal, R ;

Vriend, G ;

Haber, DA ;

Yang, A ;

McKeon, F ;

Brunner, HG ;

van Bokhoven, H .

CELL, 1999, 99 (02) :143-153

[5] NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome [J].

Cicero, DO ;

Falconi, V ;

Candi, E ;

Mele, S ;

Cadot, B ;

Di Venere, A ;

Rufini, S ;

Melino, G ;

Desideri, A .

CELL BIOCHEMISTRY AND BIOPHYSICS, 2006, 44 (03) :475-489

[6] Complex transcriptional effects of p63 isoforms: Identification of novel activation and repression domains [J].

Ghioni, P ;

Bolognese, F ;

Duijf, PHG ;

van Bokhoven, H ;

Mantovani, R ;

Guerrini, L .

MOLECULAR AND CELLULAR BIOLOGY, 2002, 22 (24) :8659-8668

[7] Crystal structures of the human SUMO-2 protein at 1.6 Å and 1.2 Å resolution -: Implication on the functional differences of SUMO proteins [J].

Huang, WC ;

Ko, TP ;

Li, SSL ;

Wang, AHJ .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 2004, 271 (20) :4114-4122

[8] Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia [J].

Kantaputra, PN ;

Hamada, T ;

Kumchai, T ;

McGrath, JA .

JOURNAL OF DENTAL RESEARCH, 2003, 82 (06) :433-437

[9] p63 in Skin Development and Ectodermal Dysplasias [J].

Koster, Maranke I. .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 (10) :2352-2358

[10] A mutation of the p63 gene in non-syndromic cleft lip [J].

Leoyklang, P. ;

Siriwan, P. ;

Shotelersuk, V. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (06)

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