PMID- 10535733
OWN - NLM
STAT- MEDLINE
DCOM- 19991110
LR  - 20220408
IS  - 0092-8674 (Print)
IS  - 0092-8674 (Linking)
VI  - 99
IP  - 2
DP  - 1999 Oct 15
TI  - Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC
      syndrome.
PG  - 143-53
AB  - 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.
FAU - Celli, J
AU  - Celli J
AD  - Department of Human Genetics 417, University Hospital Nijmegen, The Netherlands.
FAU - Duijf, P
AU  - Duijf P
FAU - Hamel, B C
AU  - Hamel BC
FAU - Bamshad, M
AU  - Bamshad M
FAU - Kramer, B
AU  - Kramer B
FAU - Smits, A P
AU  - Smits AP
FAU - Newbury-Ecob, R
AU  - Newbury-Ecob R
FAU - Hennekam, R C
AU  - Hennekam RC
FAU - Van Buggenhout, G
AU  - Van Buggenhout G
FAU - van Haeringen, A
AU  - van Haeringen A
FAU - Woods, C G
AU  - Woods CG
FAU - van Essen, A J
AU  - van Essen AJ
FAU - de Waal, R
AU  - de Waal R
FAU - Vriend, G
AU  - Vriend G
FAU - Haber, D A
AU  - Haber DA
FAU - Yang, A
AU  - Yang A
FAU - McKeon, F
AU  - McKeon F
FAU - Brunner, H G
AU  - Brunner HG
FAU - van Bokhoven, H
AU  - van Bokhoven H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
RN  - 0 (CKAP4 protein, human)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (Membrane Proteins)
RN  - 0 (Phosphoproteins)
RN  - 0 (TP63 protein, human)
RN  - 0 (Trans-Activators)
RN  - 0 (Transcription Factors)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 3
MH  - DNA-Binding Proteins
MH  - Ectodermal Dysplasia/genetics
MH  - Face/abnormalities
MH  - Female
MH  - Foot Deformities, Congenital/genetics
MH  - *Genes, Tumor Suppressor
MH  - *Genes, p53
MH  - Genetic Markers
MH  - *Germ-Line Mutation
MH  - Hand Deformities, Congenital/genetics
MH  - Humans
MH  - Male
MH  - *Membrane Proteins
MH  - Models, Molecular
MH  - Molecular Sequence Data
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Phosphoproteins/chemistry/*genetics
MH  - Protein Structure, Secondary
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
MH  - *Trans-Activators
MH  - Transcription Factors
MH  - Tumor Suppressor Proteins
EDAT- 1999/10/27 00:00
MHDA- 1999/10/27 00:01
CRDT- 1999/10/27 00:00
PHST- 1999/10/27 00:00 [pubmed]
PHST- 1999/10/27 00:01 [medline]
PHST- 1999/10/27 00:00 [entrez]
AID - S0092-8674(00)81646-3 [pii]
AID - 10.1016/s0092-8674(00)81646-3 [doi]
PST - ppublish
SO  - Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3.