Table 2 DamID selected genes related to CBX2.1 and CBX2.2.
Target name | Function | Sexual dysfunctions | |
|---|---|---|---|
DamID CBX2.1 | ESR1 | Maintaining the female phenotype of the endocrine somatic cells of the ovary by inhibiting male cell development128. | ERKO mice develop testis-like features. Null ERα mutations in human females exhibit profound estrogen resistance and have features analogous to those in the knock out mouse67. |
NRG1 | Induced by luteinizing hormone (LH)/hCG to activate the MAKP3/1 pathway to promote GC differentiation and controls ovulation and luteinization related events74. | Not reported | |
BMP2 | BMP2 with FOXL2 ensure expression follistatin in the developing ovary. It amplifies FSH-induced estradiol production in sheep granulosa cell23. | In mice, BMP2 null mutation is embryonic lethal and foetuses contain a low number of primordial germ cells leading to POF129. | |
PTGER2 | Regulation of ovulation and luteinization130. | Mice deficient in Ptger2 have ovulatory defects that are related to an abnormality in cumulus expansion131. | |
SOX9 | Stimulates the differentiation of Sertoli cells132. | In mice, derepression of Sox9 expression in XX gonads leads to testis development. Human mutation: 46, XY-sex reversal8. Duplication: 46,XX DSD. | |
POF1B | Regulates ovarian function133 | Assumed to be a causative candidate of POF134 | |
DKK1 | Repress WNT mediated beta-catenin signalling during the developing testis135. | In humans, it is a PCOS risk candidate136. | |
FZD7 | WNT signalling regulation137 | Not reported | |
DamID CBX2.2 | AMIGO2 | Potential role in lipid metabolism138 | Not reported |
TGFα | Stimulate GC proliferation; inhibit follicle stimulating hormone (FSH) receptor (granulosa cell), and LH receptor (thecal cell) expression; inhibit steroidogenesis139. | Not reported | |
TGFb2 | Follicle growth82 | Polycystic ovary syndrome82 | |
NTRK2 | Involved in the development and the maturation of the central and peripheral nervous systems140. | In the knock out mice reduced the number of secondary follicles and a decrease in granulosa cell proliferation141. | |
AKR1C1 | Implicated in the inactivation and formation of male and female sex hormones142. | In Akr1c1 deficient mice high progesterone levels and display a delay in parturition of several days143. | |
FZD5 | Induce the beta-catenin pathway144 | Not reported | |
SOX4 | Heart function145 | Reported in human ovarian cancer146 | |
RSPO3 | Regulation of Wnt/beta-catenin signalling. It has a possible role in folliculogenesis and development of germ cells of fish147. | Not reported |