By searching databases for sequences similar to paired-like homeobox proteins of the PEPP subfamily, followed by PCR of ovary cDNA, Geserick et al. (2002) cloned OTEX. The deduced 184-amino acid protein contains a characteristic 60-amino acid homeobox domain (HD). The HD has a rare helix-breaking proline at position 29 and a lysine at position 50, a site essential for the DNA-binding specificity of homeobox proteins. The HD of OTEX shares 53.3% identity with that of ESXR1 (see 300154) and 45% identity with that of PEPP2 (300447). RT-PCR detected highest expression in ovary, testis, and epididymis, and weaker expression in prostate, mammary gland, and uterus.
NCBI Summary:
This gene is a member of the PEPP subfamily of paired-like homoebox genes. The gene may be regulated by androgens and epigenetic mechanisms. The encoded nuclear protein is likely a transcription factor that may play a role in human reproduction. [provided by RefSeq, Dec 2012]
General function
DNA binding, Transcription factor
Comment
MacLean et al. (2005) identified a cluster of 12 homeobox genes on the mouse X chromosome expressed exclusively in male and female reproductive tissues. These 'reproductive homeobox X-linked' (Rhox) genes include Pem, Psx1, and Psx2, which MacLean et al. (2005) renamed Rhox5, Rhox6, and Rhox9, respectively.Rhox1 is most abundantly expressed in ovary. MacLean et al. (2005) identified human PEPP1 and PEPP2 as the likely orthologs of 1 or more Rhox genes, but extensive searching failed to identify any other human homeobox genes in the region syntenic to the mouse Rhox gene cluster.
Cellular localization
Nuclear
Comment
Ovarian function
Follicle development
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations
1 mutations
Species: human
Mutation name: None
type: naturally occurring fertility: subfertile Comment: A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure. Omrani MD 2014 et al.
Premature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl with a history of irregular menstruation and high level of follicle-stimulating hormone (FSH) (151 mlU/mL) and luteinizing hormone (LH) (56 mlU/mL). In ultrasound examination, left ovarian gonad was atrophic without any follicles. Right ovarian gonad was not seen. Cytogenetical analysis was performed on the patient and her parents. Her karyotype results was 46, X, rcp (X; 9) (q24; q13) dn. Her parents had normal karyotype. This reciprocal translocation between chromosome X and 9 and observed POF in the patient suggest either the disruption of a critical gene expression due to 'position effect' or deletion of one or more POF-related genes in the disrupted long arm of the affected X chromosome.
/////////////////////////