Mutations in nucleic acid molecules encoding 11-CIS retinol dehydrogenase, the mutated proteins, and uses thereof

a technology of retinol dehydrogenase and nucleic acid molecules, which is applied in the field of mutations in nucleic acid molecules encoding 11-cis retinol dehydrogenase, the mutated proteins, and uses thereof. it can solve the problem of reducing the concentration of rhodopsin in the retina

Inactive Publication Date: 2002-04-11
PRESIDENT & FELLOWS OF HARVARD COLLEGE +2
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  • Abstract
  • Description
  • Claims
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Problems solved by technology

Deficiencies in vitamin A result in reduction in concentrations of rhodopsin in the retina, which is followed by night blindness.

Method used

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  • Mutations in nucleic acid molecules encoding 11-CIS retinol dehydrogenase, the mutated proteins, and uses thereof
  • Mutations in nucleic acid molecules encoding 11-CIS retinol dehydrogenase, the mutated proteins, and uses thereof

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[0065] These experiments describe studies to determine the effect of the missense mutations described supra, i.e., Gly238Trp and Ser73Phe on the activity of 11-cis retinol dehydrogenase.

[0066] The first set of experiments was designed to generate mutant forms of the enzyme in vitro.

[0067] Human cDNA encoding 11-cis retinol dehydrogenase (RDH5)a is known, as per Simon, et al., supra, and allowed U.S. patent application Ser. No. 08 / 258,418, filed Jun. 10, 1994, and PCT W095 / 34580 published May 29, 1997, as SEQ ID NO: 14, all of which are incorporated by reference. See SEQ ID NO: 5 as well. The human cDNA molecule described in these references was subcloned into eukaryotic expression vector pSG5, described by Green, et al., Nucl. Acids Res. 16:369 (1988), incorporated by reference. Expression vectors which encoded mutant forms of the enzyme were then generated using single strand mutagenesis, in accordance with Kunkel, et al., Methods Enzymol. 154:367-382 (1987), and Viera, et al., Met...

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Abstract

The invention relates to mutations in the gene encoding 11-cis retinal dehyrogenase. The mutations in the gene and in the resulting encoded protein are correlated to ocular disorders, such as fundus albipunctatus.

Description

[0001] This invention relates to mutations in nucleic acid molecules encoding the protein 11-cis retinol dehydrogenase, or "RDH5," and the resulting mutated protein. These mutations are implicated in ocular disorders, such as fundus albipunctatus. The diagnostic and therapeutic ramifications of these mutations are also discussed and are features of the invention.BACKGROUND AND PRIOR ART[0002] Retinoids (vitamin A-derivatives) have important physiological functions in a variety of biological processes. During embryonic growth and development, as well as during growth and differentiation of adult organisms, retinoids act as hormones and participate in the regulation of gene expression in a number of cell types. See Lied et al. Trends Genet., 17:427-433 (1992). It is believed that these effects are medicated through two classes of nuclear ligand-controlled transcription factors, the retinoic acid receptors (RARs) and the retinoid X receptors (RXRs), Benbrook et al., Nature, 333:669-672...

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12N9/04C12Q1/68C12Q1/6883
CPCC12N9/0006C12N2799/021C12Q2600/156C12Y101/01105C12Q1/6883
Inventor SIMON, ANDRASERIKSSON, ULFDRYJA, THADDEUS P.BERSON, ELIOT L.YAMAMOTO, HIOYUJI
Owner PRESIDENT & FELLOWS OF HARVARD COLLEGE
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