We have located links that may give you full text access.
Journal Article
Research Support, Non-U.S. Gov't
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene.
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.
Full text links
Related Resources
Trending Papers
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
Molecular Targets of Novel Therapeutics for Diabetic Kidney Disease: A New Era of Nephroprotection.International Journal of Molecular Sciences 2024 April 4
Perioperative echocardiographic strain analysis: what anesthesiologists should know.Canadian Journal of Anaesthesia 2024 April 11
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app