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

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Research Abstract Details 

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Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Abstract Text:

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 p63alpha, but not p63beta and p63gamma isotypes. Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome.

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Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Cell

VOLUME: 99

Page Numbers: 143-53

Journal Abbreviation: Cell

ISSN: 0092-8674

DAY: 15

MONTH: Oct

YEAR: 1999

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

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LANGUAGE: eng

NlmUniqueID: 413066

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Keywords Mesh Terms:

KEYWORDS: Tumor Suppressor Proteins

MESH TERMS: genetics

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Substance Name: Tumor Suppressor Proteins

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Grant and Affiliation Information for Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

AFFILIATION: Department of Human Genetics 417, University Hospital Nijmegen, The Netherlands.

Country: UNITED STATES

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MEDLINETA: Cell

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

• A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
• Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
• Glyc-O-genetics of Walker-Warburg syndrome.
• Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
• Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
• Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
• Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
• The p63 gene in EEC and other syndromes.