PMID- 10394929
OWN - NLM
STAT- MEDLINE
DCOM- 19990723
LR  - 20220317
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 5
DP  - 1999 May
TI  - The mutation spectrum of the bestrophin protein--functional implications.
PG  - 383-9
AB  - Best's macular dystrophy (BMD), also known as vitelliform macular degeneration
      type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration
      with mainly juvenile onset. BMD is characterized by the accumulation of
      lipofuscin within and beneath the retinal pigment epithelium. The gene causing
      the disease has been localized to 11q13 by recombination breakpoint mapping.
      Recently, we have identified the causative gene encoding a protein named
      bestrophin, and mutations have been found mainly to affect residues that are
      conserved from a family of genes in Caenorhabditis elegans. The function of
      bestrophin is so far unknown, and no reliable predictions can be made from
      sequence comparisons. We have investigated the bestrophin gene in 14 unrelated
      Swedish, Dutch, Danish, and Moroccan families affected with BMD and found eight
      new mutations. Including the previously published mutations, 15 different
      missense mutations have now been detected in 19 of the 22 families with BMD
      investigated by our laboratory. Interestingly, the mutations cluster in certain
      regions, and no nonsense mutations or mutations causing frame-shifts have been
      identified. Computer simulations of the structural elements in the bestrophin
      protein show that this protein is probably membrane bound, with four putative
      transmembrane regions.
FAU - Bakall, B
AU  - Bakall B
AD  - Department of Genetics and Pathology, University Hospital, Uppsala, Sweden.
      benjamin.bakall@klingen.uu.se
FAU - Marknell, T
AU  - Marknell T
FAU - Ingvast, S
AU  - Ingvast S
FAU - Koisti, M J
AU  - Koisti MJ
FAU - Sandgren, O
AU  - Sandgren O
FAU - Li, W
AU  - Li W
FAU - Bergen, A A
AU  - Bergen AA
FAU - Andreasson, S
AU  - Andreasson S
FAU - Rosenberg, T
AU  - Rosenberg T
FAU - Petrukhin, K
AU  - Petrukhin K
FAU - Wadelius, C
AU  - Wadelius C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (BEST1 protein, human)
RN  - 0 (Bestrophins)
RN  - 0 (Chloride Channels)
RN  - 0 (DNA Primers)
RN  - 0 (Eye Proteins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Animals
MH  - Base Sequence
MH  - Bestrophins
MH  - Caenorhabditis elegans/genetics
MH  - Chloride Channels
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - Confidence Intervals
MH  - DNA Primers
MH  - Exons
MH  - Eye Proteins/chemistry/*genetics
MH  - Humans
MH  - Macular Degeneration/*genetics
MH  - Molecular Sequence Data
MH  - *Mutation, Missense
MH  - Protein Conformation
MH  - Recombination, Genetic
MH  - Reference Values
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
EDAT- 1999/07/08 00:00
MHDA- 1999/07/08 00:01
CRDT- 1999/07/08 00:00
PHST- 1999/07/08 00:00 [pubmed]
PHST- 1999/07/08 00:01 [medline]
PHST- 1999/07/08 00:00 [entrez]
AID - 10.1007/s004390050972 [doi]
PST - ppublish
SO  - Hum Genet. 1999 May;104(5):383-9. doi: 10.1007/s004390050972.