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HPMR

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fragile X mental retardation, autosomal homolog 1 OKDB#: 4718
 Symbols: FXR1 Species: human
 Synonyms: FXR1P,  Locus: 3q28 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: The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
General function Cell proliferation, RNA processing
Comment
Cellular localization Cytoplasmic, Nuclear
Comment
Ovarian function Oocyte maturation, Early embryo development
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Expression of RNA binding proteins DND1 and FXR1 in the porcine ovary, and during oocyte maturation and early embryo development. Yang CX et al. The porcine oocyte and early embryo are transcriptionally quiescent following germinal vesicle breakdown in the oocyte and prior to activation of the embryonic genome, at approximately the 4-cell stage of development. Despite a lack of new transcription, mRNA and protein repertoires are subject to regulation during this time. One potential mechanism of regulation is through the functional activity of miRNAs and/or the presence of specific RNA binding proteins. Both DND1 (dead end homolog 1) and FXR1 (fragile-X-mental retardation related protein 1) are RNA binding proteins that have been demonstrated to impact miRNA-mediated, post-transcriptional gene regulation. The objective was to characterize the presence and the expression changes in DND1 and FXR1 during pig oocyte maturation and early embryo development. DND1 and FXR1 expression were evaluated in oocytes and cumulus cells during meiotic progression and in 4-cell stage embryos using quantitative RT-PCR, Western blot analysis, and immunostaining. These data demonstrate DND1 and FXR1 mRNA are expressed in the maturing oocyte and early in vitro-fertilized embryos, with significantly less DND1 in 4-cell stage embryos as compared to germinal vesicle and metaphase II-arrested oocytes. Based on immunohistochemistry, DND1 protein abundance is greater in secondary follicles in comparison to primary and tertiary follicles. Using ribonucleoprotein immunoprecipitation from germinal vesicle-stage oocyte, DND1 was demonstrated to interact with several mRNAs associated with pluripotency. This work provides a better understanding of the biological relevance of DND1 and FXR1 during female gametogenesis and embryo development in pigs. Mol. Reprod. Dev. 2012 Wiley Periodicals, Inc.
Follicle stages
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.)
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created: June 27, 2012, 8:58 a.m. by: hsueh   email:
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last update: June 27, 2012, 8:59 a.m. by: hsueh    email:



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