Table 1 POF associated genes at the critical region on chromosome X which are affected at patient
From: Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure
Gene acronym | Gene name | Chromosome localisation | OMIM | Phenotype | Protein |
|---|---|---|---|---|---|
POF1B | Premature ovarian failure1B | ChrXq21.1-q21.2 | 300603 | Premature ovarian failure 2B | This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. |
BHLHB9 | Basic helix-loop-helix domain-containing class B 9 | ChrX q21.1 | Premature ovarian failure | Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of the DNA binding proteins. | |
DACH2 | Drosophila dashsund | ChrX q21.2 | 300608 | Premature ovarian failure | This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. |
DIAPH2 | Homologue drosophila | ChrXq21.33 | 300108 | Premature ovarian failure | The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. |
CENPI | Centromeric protein 1 | ChrXq22.1 | 300435 | Involved in the gonadal tissue response to FSh and assembly of the kinetochore | It has a critical role in chromosome segregation and with deletions candidate for human X-lined disorders of gonadal development and gametogenesis. |
PGRMC1 | Progesteronereceptor memebrane component-1 | ChrXq24 | 300435 | Premature ovarian failure | This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominatly in the liver and kidney. |
BCORL 1 | BCL6 Corepressor-like 1 | ChrXq25-q26.1 | 300686 | BCORL1 interacted with class II histon deacetylases suggesting that they are involved in its function as a corepressor | Deletion of BCORL 1 gene may potentially lead to insufficient repressor of apoptosis resulting in atresia of ovarian follicles. |
XPNPEP2 | Propyl aminopeptidase | ChrXq26.1 | 300145 | Angioedema induced by ACE inhibitors, susceptibility to | XPNPEP2, the X-linked gene that encodes membranous aminopeptidase P (APP), has been reported to associate with APP activity. The membrane aminopeptidase P (XPNPEP2) is largely limited in distribution to endothelia and brush border epithelia. |
FMR1 | Fragile X mental retardatin 1 | ChrXq27.3 | 309550 | Fragile X syndrome Fragile X tremore/ataxia syndrome Premature ovarian failure 1 | The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. |
FMR2/AFF2 | Fragile X mental retardation 2 | ChrXq28 | 300806 | Mentar retardation, X-linked, FRAXE type | This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. |