Abstract |
Members of the steroid-thyroid- retinoid receptor superfamily regulate a spectrum of cellular functions, including metabolism and growth and differentiation. We sought to isolate novel members of this family by using degenerate oligonucleotide primers directed to sequences encoding the AF-2 domain of these molecules in a PCR-based approach. The AF-2 domain serves a critical function in recruiting coregulatory molecules and in transcriptional activation. We report the cloning and initial characterization of a novel gene, WDR10, which encodes a 140-kD protein that is highly expressed in pituitary and testis. This protein, WDR10p, contains an AF-2 domain as well as seven N-terminal WD repeats and is highly conserved through evolution. Chromosomal localization studies placed WDR10 at 3q21, near a locus for the Moebius syndrome, Hailey-Hailey disease, and rhodopsin, which is involved in several forms of retinitis pigmentosa. The expression pattern of WDR10 and its chromosomal location makes this novel gene a candidate gene for the hypogonadism associated with some forms of retinitis pigmentosa and the Moebius syndrome.
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Authors | C Gross, E De Baere, A Lo, W Chang, L Messiaen |
Journal | DNA and cell biology
(DNA Cell Biol)
Vol. 20
Issue 1
Pg. 41-52
(Jan 2001)
ISSN: 1044-5498 [Print] United States |
PMID | 11242542
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Adaptor Proteins, Signal Transducing
- Cytoskeletal Proteins
- DNA, Complementary
- IFT122 protein, human
- Proteins
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Topics |
- Adaptor Proteins, Signal Transducing
- Amino Acid Sequence
- Animals
- Base Sequence
- Cell Line
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- Cloning, Molecular
- Cytoskeletal Proteins
- DNA, Complementary
- Humans
- Immunoblotting
- In Situ Hybridization
- Male
- Molecular Sequence Data
- Pituitary Gland
(metabolism)
- Proteins
(genetics)
- Rats
- Sequence Homology, Amino Acid
- Testis
(metabolism)
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