PMID- 10191087
OWN - NLM
STAT- MEDLINE
DCOM- 19990603
LR  - 20120713
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 57
IP  - 1
DP  - 1999 Apr 1
TI  - Genomic organization of the human galpha14 and Galphaq genes and mutation
      analysis in chorea-acanthocytosis (CHAC).
PG  - 84-93
AB  - Chorea-acanthocytosis (CHAC) (OMIM 200150) is a rare neurological syndrome
      characterized by neurodegeneration in combination with morphologically abnormal
      red cells (acanthocytosis). A partial yeast artificial chromosome contig of the
      CHAC critical region on chromosome 9q21 has been constructed, and 21 expressed
      sequence tags have been mapped. We have subsequently cloned Galpha14, a member of
      the G-protein alpha-subunit multigene family, and have identified Galphaq in the 
      contig. The genomic structure of both genes has been established after
      construction of a bacterial artificial chromosome contig that showed Galphaq and 
      Galpha14 to be in a head-to-tail arrangement (Cen-Galphaq-Galpha14-qter).
      Northern analysis found Galphaq to be ubiquitously expressed and Galpha14 to
      display a more restricted pattern of expression. Mutation analysis of the coding 
      regions and splice sites for Galphaq and Galpha14 in 10 affected individuals from
      different families identified no changes likely to cause disease; however, two
      distinct single nucleotide polymorphisms in the coding region of Galpha14 have
      been identified. This study has excluded two plausible candidate genes from
      involvement in CHAC and has provided a solid platform for a positional cloning
      initiative.
CI  - Copyright 1999 Academic Press.
FAU - Rubio, J P
AU  - Rubio JP
AD  - The Wellcome Trust Centre for Human Genetics, Windmill Road, Headington, OX3 7BN,
      England.
FAU - Levy, E R
AU  - Levy ER
FAU - Dobson-Stone, C
AU  - Dobson-Stone C
FAU - Monaco, A P
AU  - Monaco AP
LA  - eng
SI  - GENBANK/AF105201
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (DNA Primers)
RN  - EC 3.6.1.- (GTP-Binding Proteins)
RN  - EC 3.6.5.1 (GNA14 protein, human)
RN  - EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gq-G11)
RN  - EC 3.6.5.1 (Heterotrimeric GTP-Binding Proteins)
SB  - IM
MH  - *Acanthocytes
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Blotting, Northern
MH  - Chorea/*genetics
MH  - Chromosomes, Artificial, Yeast
MH  - DNA Mutational Analysis
MH  - DNA Primers
MH  - Dinucleotide Repeats
MH  - Electrophoresis, Gel, Pulsed-Field
MH  - Exons
MH  - GTP-Binding Protein alpha Subunits, Gq-G11
MH  - GTP-Binding Proteins/*genetics
MH  - Gene Expression
MH  - *Heterotrimeric GTP-Binding Proteins
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Introns
MH  - Microsatellite Repeats
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - Physical Chromosome Mapping
MH  - Syndrome
MH  - Tissue Distribution
EDAT- 1999/04/07 00:00
MHDA- 1999/04/07 00:01
CRDT- 1999/04/07 00:00
PHST- 1999/04/07 00:00 [pubmed]
PHST- 1999/04/07 00:01 [medline]
PHST- 1999/04/07 00:00 [entrez]
AID - S0888-7543(99)95758-0 [pii]
AID - 10.1006/geno.1999.5758 [doi]
PST - ppublish
SO  - Genomics. 1999 Apr 1;57(1):84-93. doi: 10.1006/geno.1999.5758.