PMID- 10023077
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20190707
IS  - 0378-1119 (Print)
IS  - 0378-1119 (Linking)
VI  - 227
IP  - 2
DP  - 1999 Feb 18
TI  - The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors.
PG  - 257-66
AB  - Retinal photoreceptor cells are particularly vulnerable to degenerations that can
      eventually lead to blindness. Our purpose is to identify and characterize genes
      expressed specifically in photoreceptors in order to increase our understanding
      of the biochemistry and function of these cells, and then to use these genes as
      candidates for the sites of mutations responsible for degenerative retinal
      diseases. We have characterized a cDNA, a fragment of which (SR3.1) was
      originally isolated by subtractive hybridization of adult, photoreceptorless rd
      mouse retinal cDNAs from the cDNAs of normal mouse retina. The full-length
      sequence of this cDNA was determined from clones obtained by screening mouse
      retinal and eye cDNA libraries and by using the 5'- and 3'-RACE methods. Both
      Northern blot analysis and in situ hybridization showed that the corresponding
      mRNA is expressed in rod and cone photoreceptors. The gene encoding this cDNA was
      mapped to the X chromosome using an interspecific cross. Based on the nucleotide 
      and amino acid sequences, as well as chromosome mapping, we determined that this 
      gene is the mouse ortholog (Xlrs1) of the human X-linked juvenile retinoschisis
      gene (XLRS1). Analysis of the predicted amino acid sequence indicates that the
      Xlrs1 mRNA may encode a secretable, adhesion protein. Therefore, our data suggest
      that X-linked juvenile retinoschisis originates from abnormalities in a
      photoreceptor-derived adhesion protein.
FAU - Reid, S N
AU  - Reid SN
AD  - Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA 90095, USA.
      reiddrs@aol.com
FAU - Akhmedov, N B
AU  - Akhmedov NB
FAU - Piriev, N I
AU  - Piriev NI
FAU - Kozak, C A
AU  - Kozak CA
FAU - Danciger, M
AU  - Danciger M
FAU - Farber, D B
AU  - Farber DB
LA  - eng
GR  - EY08285/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 (Eye Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (RS1 protein, human)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - Cloning, Molecular
MH  - Eye Proteins/chemistry/*genetics
MH  - Humans
MH  - In Situ Hybridization
MH  - Mice
MH  - Molecular Sequence Data
MH  - Photoreceptor Cells, Vertebrate/cytology/*metabolism
MH  - RNA, Messenger/metabolism
MH  - Retinal Diseases/*genetics
MH  - Sequence Analysis, DNA
MH  - Sequence Homology
MH  - X Chromosome/*genetics
EDAT- 1999/02/19 00:00
MHDA- 1999/02/19 00:01
CRDT- 1999/02/19 00:00
PHST- 1999/02/19 00:00 [pubmed]
PHST- 1999/02/19 00:01 [medline]
PHST- 1999/02/19 00:00 [entrez]
AID - S0378-1119(98)00578-2 [pii]
AID - 10.1016/s0378-1119(98)00578-2 [doi]
PST - ppublish
SO  - Gene. 1999 Feb 18;227(2):257-66. doi: 10.1016/s0378-1119(98)00578-2.