Table 1.

Mammalian oocyte RNA-binding proteins (expressed in maturing oocytes) with corresponding transgenic mouse phenotypes and any association of gene variants with human reproductive disease (female). POI: Primary ovarian insufficiency, OMD: Oocyte Maturation Deficiency, GWAS: Genome-wide association study.

Gene Name	Mouse Phenotypes	Association to Reproductive Disease in Women
CPEB1 Cytoplasmic polyadenylation element binding protein 1	KO: females sterile. Embryonic oocyte development suspended at the pachytene stage of prophase I [31]	Heterozygous deletion associated with POI [32]
CPEB4 Cytoplasmic polyadenylation element binding protein 4	KD: oocytes show impaired MI to MII transition and absence of first polar body extrusion [33]	-
DAZL Deleted in azoospermia-like	KD: oocytes showed decreased translation during late meiosis and improper spindle assembly KO: females (and males) sterile [34]	Missense mutations associated with POI in homozygous and heterozygous states [35]
EPABP Embryonic poly(A)-binding protein	KO: females infertile. Impaired growth and lack of transcriptional silencing in GV oocytes; failed translation activation in MII oocytes [36]	-
LSM14B LSM Family Member 14B	KD: high proportion of metaphase-1 arrested oocytes [37]	-
MSI2 Musashi homolog 2 (Drosophila)	KO: females showed impaired folliculogenesis and decrease in number of MII oocytes [38]	-
MSY2 Y-box-binding protein 2	KO: females (and males) infertile with impaired folliculogenesis and oocyte loss [39]	-
PATL2 Protein associated with Topoisomerase II (yeast)-like 2	KO: females subfertile, high incidence of 1) oocytes not maturing to MII stage, 2) aberrant response to fertilisation and 3) developmental arrest before blastocyst stage [40]	Nonsense, missense, frameshift and splicing variants associated with OMD with GV arrest for homozygous variants and GV to early embryo arrest for compound heterozygous mutations [40,41,42,43,44]
PUM1 Pumilio 1 (Drosophila)	KO: diminished ovarian reserve, oocytes showed delayed meiosis [24], higher rate of abnormal embryo development [45]	No pathogenic variants identified in study of POI patients [46]
PUM2 Pumilio 1 (Drosophila)	KO: Females of normal fertility, possible redundancy with PUM1/species difference [47]	GWAS association with POI [48]
ZAR1/2 Zygote arrest 1/2	ZAR1 KO: failed cleavage after fertilisation, some blastocysts with impaired EGA [49] ZAR1/2 KO: delayed meiotic resumption and first polar body extrusion, high frequency of abnormal meiotic spindle and chromosome aneuploidy [50].	-
ZAR1L Zar1-like	KD: two-cell stage embryonic arrest [51]	-
ZFP36L2 mRNA decay activator protein	KO (C57BL/6NTac): embryonic arrest at the two-cell stage KO (F3 strain): females anovulatory, oocytes did not mature [52,53]	-