NANOS3 functions in human germ cell development; indeed, NANOS3 is now one of just two genes that has been directly shown to function in germ cell development across diverse species from flies, worms, frogs and mice to humans [the other is BOULE, a member of the Deleted in Azoospermia (DAZ) gene family]. .
The information of related literatures
1. V. T. Julaton and R. A. Reijo Pera (2011) NANOS3 function in human germ cell development. Hum Mol Genet 20(11): 2238-50.
Abstract Human infertility is common and frequently linked to poor germ cell development. Yet, human germ cell development is poorly understood, at least in part due to the inaccessibility of germ cells to study especially during fetal development. Here, we explored the function of a highly conserved family of genes, the NANOS genes, in the differentiation of human germ cells from human embryonic stem cells. We observed that NANOS-1, -2 and -3 mRNAs and proteins were expressed in human gonads. We also noted that NANOS3 was expressed in germ cells throughout spermatogenesis and oogenesis and thus, focused further efforts on this family member. NANOS3 expression was highest in human germ cell nuclei where the protein co-localized with chromosomal DNA during mitosis/meiosis. Reduced expression of NANOS3 (via morpholinos or short hairpin RNA) resulted in a reduction in germ cell numbers and decreased expression of germ cell-intrinsic genes required for the maintenance of pluripotency and meiotic initiation and progression. These data provide the first direct experimental evidence that NANOS3 functions in human germ cell development; indeed, NANOS3 is now one of just two genes that has been directly shown to function in germ cell development across diverse species from flies, worms, frogs and mice to humans [the other is BOULE, a member of the Deleted in Azoospermia (DAZ) gene family]. Findings may contribute to our understanding of the basic biology of human germ cell development and may provide clinical insights regarding infertility. PMID: [21421998]
Figures for illustrating the function of this protein/gene
Ref: V. T. Julaton and R. A. Reijo Pera (2011) NANOS3 function in human germ cell development. Hum Mol Genet 20(11): 2238-50. PMID: [21421998]
Ref: V. T. Julaton and R. A. Reijo Pera (2011) NANOS3 function in human germ cell development. Hum Mol Genet 20(11): 2238-50. PMID: [21421998]
Function
Plays a role in the maintenance of the undifferentiatedstate of germ cells regulating the spermatogonia cell cycle andinducing a prolonged transit in G1 phase. Affects cellproliferation probably by repressing translation of specificmRNAs. Maintains the germ cell lineage by suppressing both Bax-dependent and -independent apoptotic pathways. Essential in theearly stage embryo to protect the migrating primordial germ cells(PGCs) from apoptosis.
Nucleus. Cytoplasm. Cytoplasmic granule (Bysimilarity). Cytoplasm, P-body (By similarity). Note=Thecytoplasmic granules are stress granules which are a denseaggregation in the cytosol composed of proteins and RNAs thatappear when the cell is under stress. Co-localizes with PUM2,EIF2S1 and TIAL1 in the stress granules. Co-localizes with DCP1Ain the P-body (By similarity).
Tissue Specificity
Ovary, testis and brain (at protein level). Inthe ovaries, expressed during multiple stages of oogenesis,including primordial, primary, secondary and antral follicles withthe highest expression in the oocytes. In the testis, expressed ingerm cells, type A spermatogonia (SA), primary spermatocytes (S1),round spermatids (S3) and elongated spermatids.