Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility
نویسندگان
چکیده
منابع مشابه
Functional studies of an evolutionarily conserved, cytochrome b5 domain protein reveal a specific role in axonemal organisation and the general phenomenon of post-division axonemal growth in trypanosomes.
Eukaryotic cilia and flagella are highly conserved structures composed of a canonical 9+2 microtubule axoneme. Several recent proteomic studies of cilia and flagella have been published, including a proteome of the flagellum of the protozoan parasite Trypanosoma brucei. Comparing proteomes reveals many novel proteins that appear to be widely conserved in evolution. Amongst these, we found a pre...
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Background: Inactivation of transcription occurs during two phases of spermatogenesis. First, in spermatocytes entering the primary meiosis and the second in round and elongating spermatids. These stages of inactivated transcription demand extensive regulation of translation. Therefore, presence of the control on gene expression during spermatogenesis seems essential. In the cases that post-tra...
متن کاملThe Parkin co-regulated gene product, PACRG, is an evolutionarily conserved axonemal protein that functions in outer-doublet microtubule morphogenesis.
Eukaryotic cilia and flagella are highly conserved structures composed of a canonical 9+2 microtubule axoneme. Comparative genomics of flagellated and non-flagellated eukaryotes provides one way to identify new putative flagellar proteins. We identified the Parkin co-regulated gene, or PACRG, from such a screen. Male mice deficient in PACRG are sterile, but its function has been little explored...
متن کاملMutations that inactivate a yeast transcriptional regulatory protein cluster in an evolutionarily conserved DNA binding domain.
The protein encoded by the GAL4 gene of the yeast Saccharomyces cerevisiae binds to DNA upstream of several genes and activates transcription. To try to understand these processes, we have undertaken a genetic analysis of GAL4. Here we report that nearly all missense mutations in GAL4, selected in vivo to lack function of the protein, cluster in the small region of the gene that encodes the DNA...
متن کاملHuman male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
One in seven couples worldwide are infertile, and male factor infertility accounts for approximately 30%-50% of these cases. Although many genes are known to be essential for gametogenesis, there are surprisingly few monogenic mutations that have been conclusively demonstrated to cause human spermatogenic failure. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcri...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2019
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2019.10.007