NOBOX
MIM.610934 7q35
Definition: NOBOX (newborn ovary homeobox gene) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis and represents a candidate gene for nonsyndromic ovarian failure.
NOBOX is a homeobox gene that is preferentially expressed in oocytes. In mice, NOBOX is essential for folliculogenesis and regulation of oocyte-specific genes.
Pathology
NOBOX homeobox mutation causes premature ovarian failure type 5 (POF5) (MIM.611548). (#17701902#)
- In a 35-year-old Caucasian woman with premature ovarian failure (POF5; MIM.611548), Qin et al. (2007) identified heterozygosity for a 1064G-A transition in exon 6 of the NOBOX gene, resulting in an arg355-to-his (R355H) substitution within the highly conserved homeodomain region.
- EMSA analysis confirmed that the R355H mutation disrupted NOBOX homeodomain binding and had a dominant-negative effect on the binding of wildtype NOBOX to DNA. The mutation was not found in 278 Caucasian female controls.
References
Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007 Sep;81(3):576-81. PMID: #17701902#