PMID- 10431241
OWN - NLM
STAT- MEDLINE
DCOM- 19990826
LR  - 20071114
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 4
DP  - 1999 Aug
TI  - Mutations in the human homologue of mouse dl cause autosomal recessive and
      dominant hypohidrotic ectodermal dysplasia.
PG  - 366-9
AB  - X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis of
      teeth, hair and eccrine sweat glands. The gene (ED1) responsible for the disorder
      has been identified, as well as the analogous X-linked gene (Ta) in the mouse.
      Autosomal recessive disorders, phenotypically indistinguishable from the X-linked
      forms, exist in humans and at two separate loci (crinkled, cr, and downless, dl) 
      in mice. Dominant disorders, possibly allelic to the recessive loci, are seen in 
      both species (ED3, Dlslk). A candidate gene has recently been identified at the
      dl locus that is mutated in both dl and Dlslk mutant alleles. We isolated and
      characterized its human DL homologue, and identified mutations in three families 
      displaying recessive inheritance and two with dominant inheritance. The disorder 
      does not map to the candidate gene locus in all autosomal recessive families,
      implying the existence of at least one additional human locus. The putative
      protein is predicted to have a single transmembrane domain, and shows similarity 
      to two separate domains of the tumour necrosis factor receptor (TNFR) family.
FAU - Monreal, A W
AU  - Monreal AW
AD  - Department of Molecular and Medical Genetics, Oregon Health Sciences University, 
      Portland 97201, USA.
FAU - Ferguson, B M
AU  - Ferguson BM
FAU - Headon, D J
AU  - Headon DJ
FAU - Street, S L
AU  - Street SL
FAU - Overbeek, P A
AU  - Overbeek PA
FAU - Zonana, J
AU  - Zonana J
LA  - eng
SI  - GENBANK/AF130988
SI  - GENBANK/AF130989
SI  - GENBANK/AF130990
SI  - GENBANK/AF130991
SI  - GENBANK/AF130992
SI  - GENBANK/AF130993
SI  - GENBANK/AF130994
SI  - GENBANK/AF130995
SI  - GENBANK/AF130996
SI  - GENBANK/AH008077
GR  - AR45316/AR/NIAMS NIH HHS/United States
GR  - DE11311/DE/NIDCR NIH HHS/United States
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  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (EDAR protein, human)
RN  - 0 (Edar Receptor)
RN  - 0 (Edar protein, mouse)
RN  - 0 (Genetic Markers)
RN  - 0 (Membrane Proteins)
RN  - 0 (Receptors, Ectodysplasin)
RN  - 0 (Receptors, Tumor Necrosis Factor)
SB  - IM
CIN - Nat Genet. 1999 Aug;22(4):315-6. PMID: 10431226
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Animals
MH  - Ectodermal Dysplasia/*genetics
MH  - Edar Receptor
MH  - Female
MH  - *Genes, Dominant
MH  - *Genes, Recessive
MH  - Genetic Markers
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Mice
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Pedigree
MH  - Physical Chromosome Mapping
MH  - Receptors, Ectodysplasin
MH  - Receptors, Tumor Necrosis Factor
MH  - Sequence Homology, Amino Acid
MH  - Tissue Distribution
EDAT- 1999/08/04 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/08/04 10:00
PHST- 1999/08/04 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/08/04 10:00 [entrez]
AID - 10.1038/11937 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Aug;22(4):366-9. doi: 10.1038/11937.