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Ovarian Kaleidoscope Database (OKdb)

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Cut-like, 1 OKDB#: 2038
 Symbols: CUTL1 Species: human
 Synonyms: CCAAT DISPLACEMENT PROTEIN, CDP|  Locus: 7q22 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment The activity of CDP, CCAAT displacement protein, was first identified in sea urchin as a possible repressor of a sperm-specific histone H2b gene. As implied by its name, CDP is thought to act by preventing binding of positively-acting CCAAT factors to promoters, although there is little experimental evidence for this (Neufeld, 1995). The wide distribution of CDP in mammalian cell lines and its postulated mechanism of action made it a potential candidate for a general repressor of developmentally regulated genes. Neufeld et al. (1992) purified CDP from HeLa cells by DNA binding-site affinity chromatography. The cDNA encoding CDP was obtained by immunoscreening a lambda-gt11 library with antibody raised against purified protein. The deduced primary amino acid sequence of CDP showed remarkable homology to the Drosophila homeoprotein cut with respect to the presence of a unique homeodomain and 'cut repeats.'

NCBI Summary: The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
General function DNA binding
Comment
Cellular localization Nuclear
Comment
Ovarian function
Comment
Expression regulated by
Comment Polycystic ovary syndrome (PCOS) affects 5% of reproductive aged women and is the leading cause of anovulatory infertility. A hallmark of PCOS is excessive theca cell androgen secretion, which is directly linked to the symptoms of PCOS. Our previous studies demonstrated that theca cells from PCOS ovaries maintained in long term culture persistently secrete significantly greater amounts of androgens than normal theca cells, suggesting an intrinsic abnormality. Furthermore, previous studies suggested that ovarian hyperandrogenemia is inherited as an autosomal dominant trait. However, the genes responsible for ovarian hyperandrogenemia of PCOS have not been identified. In this present study, Wood JR, et al carried out microarray analysis to define the gene networks involved in excess androgen synthesis by the PCOS theca cells in order to identify candidate PCOS genes. Analysis revealed that PCOS theca cells have a gene expression profile that is distinct from normal theca cells. Included in the cohort of genes with increased mRNA abundance in PCOS theca cells were aldehyde dehydrogenase 6 and retinol dehydrogenase 2, which play a role in all-trans-retinoic acid biosynthesis and the transcription factor GATA6. We demonstrated that retinoic acid and GATA6 increased the expression of 17alpha-hydroxylase, providing a functional link between altered gene expression and intrinsic abnormalities in PCOS theca cells. Thus, the analyses have 1) defined a stable molecular phenotype of PCOS theca cells, 2) suggested new mechanisms for excess androgen synthesis by PCOS theca cells, and 3) identified new candidate genes that may be involved in the genetic etiology of PCOS. This is one of the genes with Altered mRNA Abundance in PCOS Theca Cells as compared with normal theca cells Maintained Under Basal Conditions.
Ovarian localization Theca
Comment
Follicle stages Primordial
Comment Arraztoa JA, et al 2005 reported the identification of genes expressed in primate primordial oocytes.
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: July 22, 2003, 5:22 p.m. by: Rami   email:
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last update: June 21, 2006, 10:45 a.m. by: alex    email:



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