PMID- 10051329
OWN - NLM
STAT- MEDLINE
DCOM- 19990326
LR  - 20190905
IS  - 0938-8990 (Print)
IS  - 0938-8990 (Linking)
VI  - 10
IP  - 3
DP  - 1999 Mar
TI  - Isolation and characterization of the murine X-linked juvenile retinoschisis
      (Rs1h) gene.
PG  - 303-7
AB  - X-linked juvenile retinoschisis (RS) is a vitreoretinal degeneration affecting
      only males. Recently, the RS1 gene underlying this common cause of early vision
      loss was identified and shown to encode a 224-amino acid precursor protein
      including a 23-residue leader sequence as well as a highly conserved discoidin
      motif at the C-terminus. Functional studies in other proteins with discoidin
      motifs have implicated this domain in phospholipid binding and cell-cell
      interactions on membrane surfaces. Thus, similar functional properties may exist 
      for RS1 and may be related to the histopathological findings in RS. In order to
      further pursue the pathophysiology of RS and to understand RS1 function in early 
      eye development, we now report the identification and characterization of the
      complete murine Rs1h gene. The full-length Rs1h cDNA was isolated by RT-PCR with 
      degenerate oligonucleotide primers designed from human RS1 cDNA sequences.
      Subsequently, the exon/intron structure was determined in genomic DNA from mouse 
      strain 129/SvJ. We show that human and murine RS1 coding sequences, exon/intron
      boundaries, as well as retina-specific expression, are highly conserved between
      the two species. The conceptual human and murine protein sequences reveal 96%
      amino acid identity with no amino acid changes within the discoidin domain. In
      addition, alignment of 5'-flanking sequences upstream of the human and mouse RS1 
      translation initiation sites identified putative binding sites for several
      transcription factors including CRX, a homeodomain transcription factor known to 
      activate the transcription of several photoreceptor-specific genes.
FAU - Gehrig, A E
AU  - Gehrig AE
AD  - Institut fur Humangenetik, Biozentrum, Am Hubland, Universitat Wurzburg, 97074
      Wurzburg, Germany.
FAU - Warneke-Wittstock, R
AU  - Warneke-Wittstock R
FAU - Sauer, C G
AU  - Sauer CG
FAU - Weber, B H
AU  - Weber BH
LA  - eng
SI  - GENBANK/AF084561
SI  - GENBANK/AF084562
SI  - GENBANK/AF084563
SI  - GENBANK/AF084564
SI  - GENBANK/AF084565
SI  - GENBANK/AF084566
SI  - GENBANK/AF084567
SI  - GENBANK/AH007527
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Mamm Genome
JT  - Mammalian genome : official journal of the International Mammalian Genome Society
JID - 9100916
RN  - 0 (DNA Primers)
RN  - 0 (DNA, Complementary)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Blotting, Northern
MH  - Cloning, Molecular
MH  - DNA Primers
MH  - DNA, Complementary
MH  - *Genetic Linkage
MH  - Humans
MH  - Mice
MH  - Molecular Sequence Data
MH  - Regulatory Sequences, Nucleic Acid
MH  - Retinal Degeneration/*genetics
MH  - Sequence Homology, Amino Acid
MH  - Sequence Homology, Nucleic Acid
MH  - *X Chromosome
EDAT- 1999/03/02 00:00
MHDA- 1999/03/02 00:01
CRDT- 1999/03/02 00:00
PHST- 1999/03/02 00:00 [pubmed]
PHST- 1999/03/02 00:01 [medline]
PHST- 1999/03/02 00:00 [entrez]
AID - 10.1007/s003359900991 [doi]
PST - ppublish
SO  - Mamm Genome. 1999 Mar;10(3):303-7. doi: 10.1007/s003359900991.