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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | BOLL , BOULE, boule homolog, RNA binding protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606165 MGI: 1922638 HomoloGene: 33650 GeneCards: BOLL | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein boule-like is a protein that in humans is encoded by the BOLL gene. [5] [6] [7]
| BOLL | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | BOLL , BOULE, boule homolog, RNA binding protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606165 MGI: 1922638 HomoloGene: 33650 GeneCards: BOLL | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein boule-like is a protein that in humans is encoded by the BOLL gene. [5] [6] [7]
This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2 / M transition in fruitfly but in mice the primary defect is postmeiotic at round spermatid stage. [8] Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [7] [9]
The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax. [10]
David C. Page is an American biologist and professor at the Massachusetts Institute of Technology (MIT), the director of the Whitehead Institute, and a Howard Hughes Medical Institute (HHMI) investigator. He is best known for his work on mapping the Y-chromosome and on its evolution in mammals and expression during development. He was cited by Bryan Sykes in Adam's Curse: A Future Without Men.
Azoospermia is the medical condition of a man whose semen contains no sperm. It is associated with male infertility, but many forms are amenable to medical treatment. In humans, azoospermia affects about 1% of the male population and may be seen in up to 20% of male infertility situations in Canada.
The germ cell nuclear factor (GCNF), also known as RTR or NR6A1, is a protein that in humans is encoded by the NR6A1 gene. GCNF is a member of the nuclear receptor family of intracellular transcription factors.
Deleted in azoospermia-like is a protein that in humans is encoded by the DAZL gene.
Deleted in azoospermia 1, also known as DAZ1, is a protein which in humans is encoded by the DAZ1 gene.
Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.
Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2 gene.
DAZ-associated protein 1 is a protein that in humans is encoded by the DAZAP1 gene.
Pumilio homolog 2 is an RNA-binding protein that in humans is encoded by the PUM2 gene.
Quaking homolog, KH domain RNA binding (mouse), also known as QKI, is a protein which in humans is encoded by the QKI gene.
RNA-binding motif protein, Y chromosome, family 1 member A1/C is a protein that in humans is encoded by the RBMY1A1 gene.
DAZ-associated protein 2 is a protein that in humans is encoded by the DAZAP2 gene.
Zinc finger protein DZIP1 is a protein that in humans is encoded by the DZIP1 gene.
Protein pelota homolog is a protein that in humans is encoded by the PELO gene.
Cytochrome P450 26B1 is a protein that in humans is encoded by the CYP26B1 gene.
Testis-specific basic protein Y 2 also known as basic charge, Y-linked 2 is a protein that in humans is encoded by the BPY2 gene which resides on the Y chromosome.
Nanos homolog 1 (Drosophila) is a protein that in humans is encoded by the NANOS1 gene.
Testis expressed 11 is a protein that in humans is encoded by the TEX11 gene.
The DAZprotein family is a group of three highly conserved RNA-binding proteins that are important in gametogenesis and meiosis. Therefore, mutations in the genes that encode for the DAZ proteins can have detrimental consequences for fertility.
Spermatogenesis-associated protein 16 is a mammalian protein encoded by the SPATA16 gene. SPATA16, also known as NYD-SP12, is a developmental protein that aids in differentiation of germ cells for spermatogenesis and participates in acrosome formation for appropriate sperm-egg fusion. SPATA16 is located on chromosome 3 at position 26.31 and is a member of the tetratricopeptide repeat-like superfamily, which facilitate interactions and assemblies between proteins and protein complexes.
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