NOBOX oogenesis homeobox | |||||||||||||
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Identifiers | |||||||||||||
Symbols | NOBOX ; OG-2; OG2; OG2X; POF5; TCAG_12042 | ||||||||||||
External IDs | OMIM: 610934 MGI: 108011 HomoloGene: 51066 GeneCards: NOBOX Gene | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 135935 | 18291 | |||||||||||
Ensembl | ENSG00000106410 | ENSMUSG00000029736 | |||||||||||
UniProt | O60393 | Q8VIH1 | |||||||||||
RefSeq (mRNA) | NM_001080413 | NM_130869 | |||||||||||
RefSeq (protein) | NP_001073882 | NP_570939 | |||||||||||
Location (UCSC) | Chr 7: 144.09 – 144.11 Mb |
Chr 6: 43.3 – 43.31 Mb |
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PubMed search | [1] | [2] | |||||||||||
Homeobox protein NOBOX, also known as newborn ovary homeobox protein, is a protein that in humans is encoded by the NOBOX gene.[1][2][3]
Function
NOBOX is a homeobox gene that is preferentially expressed in oocytes. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes.[3]
Clinical significance
A mutation in the NOBOX gene is associated with premature ovarian failure.[4]
References
- ^ "Entrez Gene: NOBOX oogenesis homeobox".
- ^ Suzumori N, Yan C, Matzuk MM, Rajkovic A (February 2002). "Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes". Mech. Dev. 111 (1-2): 137–41. doi:10.1016/S0925-4773(01)00620-7. PMID 11804785.
- ^ a b Huntriss J, Hinkins M, Picton HM (May 2006). "cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles". Mol. Hum. Reprod. 12 (5): 283–9. doi:10.1093/molehr/gal035. PMID 16597639.
- ^ Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A (September 2007). "NOBOX homeobox mutation causes premature ovarian failure". Am. J. Hum. Genet. 81 (3): 576–81. doi:10.1086/519496. PMC 1950834. PMID 17701902.
Further reading
- Rovescalli AC, Asoh S, Nirenberg M (1996). "Cloning and characterization of four murine homeobox genes.". Proc. Natl. Acad. Sci. U.S.A. 93 (20): 10691–6. doi:10.1073/pnas.93.20.10691. PMC 38216. PMID 8855241.
- Qin Y, Choi Y, Zhao H et al. (2007). "NOBOX homeobox mutation causes premature ovarian failure.". Am. J. Hum. Genet. 81 (3): 576–81. doi:10.1086/519496. PMC 1950834. PMID 17701902.
- Brauner R, Bashamboo A, Rouget S et al. (2010). "Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.". PLoS ONE 5 (6): e11282. doi:10.1371/journal.pone.0011282. PMC 2892512. PMID 20593028.
- Hillier LW, Fulton RS, Fulton LA et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Zhao XX, Suzumori N, Yamaguchi M, Suzumori K (2005). "Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure.". Fertil. Steril. 83 (6): 1843–4. doi:10.1016/j.fertnstert.2004.12.031. PMID 15950662.
- Oldenburg RA, van Dooren MF, de Graaf B et al. (2008). "A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.". Hum. Reprod. 23 (12): 2835–41. doi:10.1093/humrep/den278. PMID 18689850.
- van Dooren MF, Bertoli-Avellab AM, Oldenburg RA (2009). "Premature ovarian failure and gene polymorphisms.". Curr. Opin. Obstet. Gynecol. 21 (4): 313–7. PMID 19610175.
- Rajkovic A, Pangas SA, Ballow D et al. (2004). "NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression.". Science 305 (5687): 1157–9. doi:10.1126/science.1099755. PMID 15326356.
- Rossi E, Verri AP, Patricelli MG et al. (2008). "A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.". Eur J Med Genet 51 (6): 631–8. doi:10.1016/j.ejmg.2008.06.010. PMID 18675947.
- Venter JC, Adams MD, Myers EW et al. (2001). "The sequence of the human genome.". Science 291 (5507): 1304–51. doi:10.1126/science.1058040. PMID 11181995.
- Qin Y, Shi Y, Zhao Y et al. (2009). "Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.". Fertil. Steril. 91 (4 Suppl): 1507–9. doi:10.1016/j.fertnstert.2008.08.020. PMID 18930203.
References
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