PMID- 10564809
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  - Structure, alternative splicing, and expression of the human RGS9 gene.
PG  - 23-34
AB  - An isoform of RGS9 was recently identified as the GTPase activating protein in
      bovine and mouse rod and cone photoreceptors. To explore the potential role of
      the RGS9 gene in human retinal disease, we determined its exon/intron
      arrangement, and investigated its expression in human retina. The results show
      that the gene, located on 17q24, consists of 19 exons and spans more than 75kb of
      genomic DNA. The entire gene was found to be contained on a single BAC clone with
      an insert size of 170kb. The major transcripts of the gene are alternatively
      spliced into a 9.5kb retina-specific transcript (RGS9-1) and a brain specific
      2.5kb transcript (RGS9-2). Exons 1-16 are constitutive and present in both
      variants. Exon 17 contains the 3' end of the open reading frame and the 3'-UTR of
      the RGS9-1 variant. In RGS9-2, exon 17 is alternatively spliced and joined to
      exons 18 and 19 that are not present in the retina variant. Immunolocalization
      with a monoclonal antibody recognizing the retina and brain variants shows
      abundant expression in photoreceptors and possibly very low levels in cell types 
      of the inner retina. Owing to the specific expression of RGS9-1 in photoreceptors
      the RGS9 gene is a candidate gene for RP17, a form of autosomal retinitis
      pigmentosa, located on the long arm of chromosome 17.
FAU - Zhang, K
AU  - Zhang K
AD  - Moran Eye Center, University of Utah, Salt Lake City, UT, USA.
FAU - Howes, K A
AU  - Howes KA
FAU - He, W
AU  - He W
FAU - Bronson, J D
AU  - Bronson JD
FAU - Pettenati, M J
AU  - Pettenati MJ
FAU - Chen, C
AU  - Chen C
FAU - Palczewski, K
AU  - Palczewski K
FAU - Wensel, T G
AU  - Wensel TG
FAU - Baehr, W
AU  - Baehr W
LA  - eng
SI  - GENBANK/AF178056
SI  - GENBANK/AF178057
SI  - GENBANK/AF178058
SI  - GENBANK/AF178059
SI  - GENBANK/AF178060
SI  - GENBANK/AF178061
SI  - GENBANK/AF178062
SI  - GENBANK/AF178063
SI  - GENBANK/AF178064
SI  - GENBANK/AF178065
SI  - GENBANK/AF178066
SI  - GENBANK/AF178067
SI  - GENBANK/AF178068
SI  - GENBANK/AF178069
SI  - GENBANK/AF178070
SI  - GENBANK/AF178071
SI  - GENBANK/AF178072
GR  - EY07981/EY/NEI NIH HHS/United States
GR  - EY08061/EY/NEI NIH HHS/United States
GR  - EY11900/EY/NEI NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (DNA, Complementary)
RN  - 0 (Protein Isoforms)
RN  - 0 (RGS Proteins)
RN  - 0 (regulator of g-protein signaling 9)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Aged
MH  - *Alternative Splicing
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Blotting, Southern
MH  - Blotting, Western
MH  - Brain/metabolism
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Corpus Striatum/chemistry
MH  - Cricetinae
MH  - DNA/analysis
MH  - DNA, Complementary/genetics/isolation & purification
MH  - Exons
MH  - Gene Expression Regulation, Developmental
MH  - Genes/*genetics
MH  - Genetic Variation
MH  - Humans
MH  - Hybrid Cells
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Introns
MH  - Mammals/genetics
MH  - Molecular Sequence Data
MH  - Protein Isoforms/genetics
MH  - RGS Proteins/analysis/*genetics
MH  - Retina/chemistry/metabolism
MH  - Sequence Homology, Amino Acid
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 - S0378111999003935 [pii]
AID - 10.1016/s0378-1119(99)00393-5 [doi]
PST - ppublish
SO  - Gene. 1999 Nov 15;240(1):23-34. doi: 10.1016/s0378-1119(99)00393-5.