PMID- 10431238
OWN - NLM
STAT- MEDLINE
DCOM- 19990826
LR  - 20220321
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 4
DP  - 1999 Aug
TI  - Tangier disease is caused by mutations in the gene encoding ATP-binding cassette 
      transporter 1.
PG  - 352-5
AB  - Tangier disease (TD) was first discovered nearly 40 years ago in two siblings
      living on Tangier Island. This autosomal co-dominant condition is characterized
      in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma,
      hepatosplenomegaly, peripheral neuropathy and frequently premature coronary
      artery disease (CAD). In heterozygotes, HDL-C levels are about one-half those of 
      normal individuals. Impaired cholesterol efflux from macrophages leads to the
      presence of foam cells throughout the body, which may explain the increased risk 
      of coronary heart disease in some TD families. We report here refining of our
      previous linkage of the TD gene to a 1-cM region between markers D9S271 and
      D9S1866 on chromosome 9q31, in which we found the gene encoding human ATP
      cassette-binding transporter 1 (ABC1). We also found a change in ABC1 expression 
      level on cholesterol loading of phorbol ester-treated THP1 macrophages,
      substantiating the role of ABC1 in cholesterol efflux. We cloned the full-length 
      cDNA and sequenced the gene in two unrelated families with four TD homozygotes.
      In the first pedigree, a 1-bp deletion in exon 13, resulting in truncation of the
      predicted protein to approximately one-fourth of its normal size, co-segregated
      with the disease phenotype. An in-frame insertion-deletion in exon 12 was found
      in the second family. Our findings indicate that defects in ABC1, encoding a
      member of the ABC transporter superfamily, are the cause of TD.
FAU - Rust, S
AU  - Rust S
AD  - Institut fur Arterioskleroseforschung an der Westfalischen Wilhelms-Universitat
      Munster, Germany. Rusts@uni-muenster.de
FAU - Rosier, M
AU  - Rosier M
FAU - Funke, H
AU  - Funke H
FAU - Real, J
AU  - Real J
FAU - Amoura, Z
AU  - Amoura Z
FAU - Piette, J C
AU  - Piette JC
FAU - Deleuze, J F
AU  - Deleuze JF
FAU - Brewer, H B
AU  - Brewer HB
FAU - Duverger, N
AU  - Duverger N
FAU - Denefle, P
AU  - Denefle P
FAU - Assmann, G
AU  - Assmann G
LA  - eng
SI  - GENBANK/AF165281
SI  - GENBANK/AF165282
SI  - GENBANK/AF165283
SI  - GENBANK/AF165284
SI  - GENBANK/AF165285
SI  - GENBANK/AF165286
SI  - GENBANK/AF165287
SI  - GENBANK/AF165288
SI  - GENBANK/AF165289
SI  - GENBANK/AF165290
SI  - GENBANK/AF165291
SI  - GENBANK/AF165292
SI  - GENBANK/AF165293
SI  - GENBANK/AF165294
SI  - GENBANK/AF165295
SI  - GENBANK/AF165296
SI  - GENBANK/AF165297
SI  - GENBANK/AF165298
SI  - GENBANK/AF165299
SI  - GENBANK/AF165300
SI  - GENBANK/AF165301
SI  - GENBANK/AF165302
SI  - GENBANK/AF165303
SI  - GENBANK/AF165304
SI  - GENBANK/AF165305
SI  - GENBANK/AF165306
SI  - GENBANK/AF165307
SI  - GENBANK/AF165308
SI  - GENBANK/AF165309
SI  - GENBANK/AF165310
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (ABCA1 protein, human)
RN  - 0 (ATP Binding Cassette Transporter 1)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Apolipoproteins E)
RN  - 0 (Genetic Markers)
RN  - 0 (Glycoproteins)
RN  - 0 (Lipoproteins, HDL)
RN  - 0 (apolipoprotein E-rich HDL)
SB  - IM
CIN - Nat Genet. 1999 Aug;22(4):316-8. PMID: 10431227
MH  - ATP Binding Cassette Transporter 1
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Amino Acid Sequence
MH  - Apolipoproteins E/blood
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 9
MH  - Exons
MH  - Female
MH  - Gene Library
MH  - Genetic Markers
MH  - Glycoproteins/*genetics
MH  - Humans
MH  - Lipoproteins, HDL
MH  - Male
MH  - Models, Biological
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Pedigree
MH  - Tangier Disease/*genetics
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 - 10.1038/11921 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Aug;22(4):352-5. doi: 10.1038/11921.