The genetics of premature ovarian failure: current perspectives

Figures & data

Figure 1 A schematic representation of the process of folliculogenesis in the mammalian ovary from primordial follicles through to follicle ovulation and subsequent corpus luteum formation.

Notes: Initial recruitment is gonadotropin independent and involves the differentiation of primordial follicles into primary and preantral follicles, the majority of which undergo atresia prior to puberty. Cyclic recruitment occurs after puberty and is gonadotropin dependent. Cyclic recruitment involves the growth and development of antral follicles through to mature preovulatory follicle selection and ovulation or atresia. This process continues throughout a female’s reproductive lifespan until the primordial follicle pool is depleted.

Table 1 POF candidate genes and their functions in relation to POF pathogenesis

Gene	Chromosomal location	Gene function	References
FMR1	Xq27.3	Oocyte development and maturation	Allingham-Hawkins et al^Citation19 Allen et al^Citation20
NR5A1	9q33.3	Ovarian steroidogenesis	Lourenco et al^Citation27
NOBOX	7q25	Early folliculogenesis	Qin et al^Citation26
FIGLA	2p12	Regulation of zona pellucida genes	Zhao et al^Citation35
FOXL2	3q23	Granulosa cell differentiation and follicle development	Crisponi et al^Citation36 Harris et al^Citation25 Woad et al^Citation6
SOHLH 1/2	13q13.3	Early folliculogenesis	Qin et al^Citation14 Zhao et al^Citation39
BMP-15	Zq11.2	Follicular maturation	Chand et al^Citation43 Di Pasquale et al^Citation44 Dixit et al^Citation45 Laissue et al^Citation46
GDF-9	5q23.2	Follicular maturation	Dixit et al^Citation99 Chand et al^Citation43 Laissue et al^Citation46 Zhao et al^Citation100 Wang et al^Citation51
INHA	2q33-36	Folliculogenesis regulation through FSH inhibition	Shelling et al^Citation13 Marozzi et al^Citation55 Dixit et al^Citation54
FSHR	2p21	Follicular growth and development, ovarian steroidogenesis	Aittomäki et al^Citation62 Layman et al^Citation64 Da Fonte Kohek et al^Citation63 Woad et al^Citation66
LHR	2p21	Follicle maturation, ovarian steroidogenesis and ovulation	Latronico et al^Citation67 Persani et al^Citation28
ESR1	6q25.1	Follicle growth and maturation	Bretherick et al^Citation72 M’Rabet et al^Citation70 de Mattos et al^Citation69

Abbreviations: FSH, follicle-stimulating hormone; POF, premature ovarian failure.

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