PMID- 10564830
OWN - NLM
STAT- MEDLINE
DCOM- 20000111
LR  - 20190707
IS  - 0378-1119 (Print)
IS  - 0378-1119 (Linking)
VI  - 240
IP  - 1
DP  - 1999 Nov 15
TI  - Evaluation and molecular characterization of EHD1, a candidate gene for
      Bardet-Biedl syndrome 1 (BBS1).
PG  - 227-32
AB  - Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by
      developmental abnormalities including mental retardation, obesity, retinitis
      pigmentosa, polydactyly, short stature, and hypogenitalism. To date, five BBS
      loci have been identified. BBS1, located on 11q13, is reported to be the most
      prevalent form of BBS in the Caucasian population. A positional cloning approach 
      is being used to identify the gene responsible for BBS1. EHD1, a new member of
      the EH-domain containing proteins, was identified in this study as lying within
      the BBS1 disease interval. RNA analysis of many tissues revealed that expression 
      of EHD1 is ubiquitous, with elevated levels in the testis. The genomic structure 
      of EHD1 was elucidated by direct BAC sequencing. Following identification of the 
      intron/exon boundaries, mutational analysis was performed by single strand
      conformation polymorphism and direct sequencing of affected individuals from
      several large kindreds linked to the BBS1 locus, as well as a cohort of unrelated
      probands. No disease-causing mutations were identified in this analysis, but
      several polymorphisms were found.
FAU - Haider, N B
AU  - Haider NB
AD  - Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
FAU - Searby, C
AU  - Searby C
FAU - Galperin, E
AU  - Galperin E
FAU - Mintz, L
AU  - Mintz L
FAU - Horowitz, M
AU  - Horowitz M
FAU - Stone, E M
AU  - Stone EM
FAU - Sheffield, V C
AU  - Sheffield VC
LA  - eng
GR  - R01-EY-11298/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (Carrier Proteins)
RN  - 0 (EHD1 protein, human)
RN  - 0 (Vesicular Transport Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Amino Acid Sequence
MH  - Bardet-Biedl Syndrome/*genetics
MH  - Carrier Proteins/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Cohort Studies
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Family Health
MH  - Genes/genetics
MH  - Humans
MH  - Hybrid Cells
MH  - Introns
MH  - Microsatellite Repeats
MH  - Molecular Sequence Data
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Sequence Analysis, DNA
MH  - Sequence Deletion
MH  - *Vesicular Transport Proteins
EDAT- 1999/11/24 00:00
MHDA- 1999/11/24 00:01
CRDT- 1999/11/24 00:00
PHST- 1999/11/24 00:00 [pubmed]
PHST- 1999/11/24 00:01 [medline]
PHST- 1999/11/24 00:00 [entrez]
AID - S0378-1119(99)00395-9 [pii]
AID - 10.1016/s0378-1119(99)00395-9 [doi]
PST - ppublish
SO  - Gene. 1999 Nov 15;240(1):227-32. doi: 10.1016/s0378-1119(99)00395-9.