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HPMR

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Son Of Sevenless, Drosophila, Homolog 1 OKDB#: 2293
 Symbols: SOS1 Species: human
 Synonyms: SOS1 GUANINE NUCLEOTIDE EXCHANGE FACTOR|  Locus: 2p22-p21 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: RAS genes (e.g., MIM 190020) encode membrane-bound guanine nucleotide-binding proteins that function in the transduction of signals that control cell growth and differentiation. Binding of GTP activates RAS proteins, and subsequent hydrolysis of the bound GTP to GDP and phosphate inactivates signaling by these proteins. GTP binding can be catalyzed by guanine nucleotide exchange factors for RAS, and GTP hydrolysis can be accelerated by GTPase-activating proteins (GAPs). The first exchange factor to be identified for RAS was the S. cerevisiae CDC25 gene product. Genetic analysis indicated that CDC25 is essential for activation of RAS proteins. In Drosophila, the protein encoded by the 'son of sevenless' gene (Sos) contains a domain that shows sequence similarity with the catalytic domain of CDC25. Sos may act as a positive regulator of RAS by promoting guanine nucleotide exchange.[supplied by OMIM]
General function
Comment
Cellular localization Cytoplasmic
Comment
Ovarian function Oogenesis, Oocyte maturation
Comment Gene whose expression is detected by cDNA array hybridization: transporters, signal transduction Rozenn Dalbis-Tran and Pascal Mermilloda
Expression regulated by
Comment
Ovarian localization Oocyte
Comment This gene was found in bovine oocyte by Dalbies-Tran R, Mermillod P. 2003 . The authors have analyzed gene expression in bovine oocytes before and after in vitro maturation (IVM) using heterologous hybridization onto cDNA array. Total RNA was purified from pools of over 200 oocytes either immediately after aspiration from follicles at the surface of slaughterhouse cow ovaries or following in vitro maturation. Radiolabeled cDNA probes were generated by reverse-transcription followed by linear PCR amplification and were hybridized to Atlas human cDNA arrays. To our knowledge, this is the first report of gene expression profiling by this technology in the mammalian female germ cell. Our results demonstrate that cDNA array screening is a suitable method for analyzing the transcription pattern in oocytes. About 300 identified genes were reproducibly shown to be expressed in the bovine oocyte, the largest profile available so far in this model. The relative abundance of most messenger RNAs appeared stable during IVM. However, 70 transcripts underwent a significant differential regulation (by a factor of at least two). Their potential role in the context of oocyte maturation is discussed. Together they constitute a molecular signature of the degree of oocyte cytoplasmic maturation achieved in vitro.
Follicle stages Preovulatory
Comment
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.)
OMIM \ Animal Model
KEGG Pathways
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created: Nov. 13, 2003, 12:40 p.m. by: hsueh   email:
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last update: July 25, 2006, 3:32 p.m. by: Alex    email:



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