PMID- 10401007
OWN - NLM
STAT- MEDLINE
DCOM- 19990914
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 8
DP  - 1999 Aug
TI  - RPGR transcription studies in mouse and human tissues reveal a retina-specific
      isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
PG  - 1571-8
AB  - X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous group of
      progressive retinal degenerations. The disease process is initiated by premature 
      apoptosis of rod photoreceptor cells in the retina, which leads to reduced visual
      acuity and, eventually, complete blindness. Mutations in the retinitis pigmentosa
      GTPase regulator ( RPGR ), a ubiquitously expressed gene at the RP3 locus in
      Xp21.1, account for approximately 20% of all X-linked cases. We have analysed the
      expression of this gene by northern blot hybridization, cDNA library screening
      and RT-PCR in various organs from mouse and man. These studies revealed at least 
      12 alternatively spliced isoforms. Some of the transcripts are tissue specific
      and contain novel exons, which elongate or truncate the previously reported open 
      reading frame of the mouse and human RPGR gene. One of the newly identified exons
      is expressed exclusively in the human retina and mouse eye and contains a
      premature stop codon. The deduced polypeptide lacks 169 amino acids from the
      C-terminus of the ubiquitously expressed variant, including an isoprenylation
      site. Moreover, this exon was found to be deleted in a family with XLRP. Our
      results indicate tissue-dependent regulation of alternative splicing of RPGR in
      mouse and man. The discovery of a retina-specific transcript may explain why
      phenotypic abberations in RP3 are confined to the eye.
FAU - Kirschner, R
AU  - Kirschner R
AD  - Max-Planck-Institut fur molekulare Genetik, Ihnestrasse 73, D-14195 Berlin,
      Germany. kirschne@mpimg-berlin-dahlem.mpg.de
FAU - Rosenberg, T
AU  - Rosenberg T
FAU - Schultz-Heienbrok, R
AU  - Schultz-Heienbrok R
FAU - Lenzner, S
AU  - Lenzner S
FAU - Feil, S
AU  - Feil S
FAU - Roepman, R
AU  - Roepman R
FAU - Cremers, F P
AU  - Cremers FP
FAU - Ropers, H H
AU  - Ropers HH
FAU - Berger, W
AU  - Berger W
LA  - eng
SI  - GENBANK/AJ238395
SI  - GENBANK/AJ238396
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA, Complementary)
RN  - 0 (Eye Proteins)
RN  - 0 (Protein Isoforms)
RN  - 0 (RPGR protein, human)
RN  - 63231-63-0 (RNA)
SB  - IM
MH  - Adult
MH  - Animals
MH  - Animals, Newborn
MH  - Base Sequence
MH  - Blindness/genetics
MH  - Carrier Proteins/*genetics/metabolism
MH  - Cell Line
MH  - DNA, Complementary/chemistry/genetics
MH  - Exons/genetics
MH  - *Eye Proteins
MH  - Female
MH  - Follow-Up Studies
MH  - Gene Expression
MH  - Genes/genetics
MH  - Genetic Linkage
MH  - Humans
MH  - Introns/genetics
MH  - Male
MH  - Mice
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Protein Isoforms/*genetics
MH  - RNA/genetics/metabolism
MH  - Retina/*metabolism/pathology
MH  - Retinitis Pigmentosa/*genetics/pathology
MH  - Sequence Analysis, DNA
MH  - Sequence Deletion
MH  - Sequence Homology, Nucleic Acid
MH  - Tissue Distribution
MH  - Transcription, Genetic
MH  - Vision Tests
MH  - X Chromosome/*genetics
EDAT- 1999/07/13 00:00
MHDA- 1999/07/13 00:01
CRDT- 1999/07/13 00:00
PHST- 1999/07/13 00:00 [pubmed]
PHST- 1999/07/13 00:01 [medline]
PHST- 1999/07/13 00:00 [entrez]
AID - ddc174 [pii]
AID - 10.1093/hmg/8.8.1571 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Aug;8(8):1571-8. doi: 10.1093/hmg/8.8.1571.