Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

Celli, Jacopo, Duijf, Pascal, Hamel, Ben C. J., Bamshad, Michael, Kramer, Bridget, Smits, Arie P. T., Newbury-Ecob, Ruth, Hennekam, Raoul C. M., Van Buggenhout, Griet, van Haeringen, Arie, Woods, C. Geoffrey, van Essen, Anthonie J., de Waal, Rob, Vriend, Gert, Haber, Daniel A., Yang, Annie, McKeon, Frank, Brunner, Han G. and van Bokhoven, Hans (1999) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell, 99 2: 143-153. doi:10.1016/S0092-8674(00)81646-3

Author Celli, Jacopo
Duijf, Pascal
Hamel, Ben C. J.
Bamshad, Michael
Kramer, Bridget
Smits, Arie P. T.
Newbury-Ecob, Ruth
Hennekam, Raoul C. M.
Van Buggenhout, Griet
van Haeringen, Arie
Woods, C. Geoffrey
van Essen, Anthonie J.
de Waal, Rob
Vriend, Gert
Haber, Daniel A.
Yang, Annie
McKeon, Frank
Brunner, Han G.
van Bokhoven, Hans
Title Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
Journal name Cell   Check publisher's open access policy
ISSN 0092-8674
Publication date 1999-10-15
Sub-type Article (original research)
DOI 10.1016/S0092-8674(00)81646-3
Open Access Status
Volume 99
Issue 2
Start page 143
End page 153
Total pages 11
Language eng
Formatted abstract
EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC syndrome families to a region of chromosome 3q27 previously implicated in the EEC-like disorder, limb mammary syndrome (LMS). Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families. Eight mutations result in amino acid substitutions that are predicted to abolish the DNA binding capacity of p63. The ninth is a frameshift mutation that affects the p63α, but not p63β and p63γ isotypes. Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome.
Keyword Split foot locus
Limb development
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
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Created: Fri, 06 Dec 2013, 01:26:16 EST by Pascal Duijf on behalf of UQ Diamantina Institute