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Tudor Domain Protein 1 OKDB#: 3621
 Symbols: TDRD1 Species: human
 Synonyms: FLJ21082,  Locus: 10q25.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined.
General function
Comment
Cellular localization
Comment
Ovarian function
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Expression regulated by
Comment
Ovarian localization Primordial Germ Cell
Comment Tdrd1/Mtr-1, a tudor-related gene, is essential for male germ-cell differentiation and nuage/germinal granule formation in mice. Chuma S et al. Embryonic patterning and germ-cell specification in mice are regulative and depend on zygotic gene activities. However, there are mouse homologues of Drosophila maternal effect genes, including vasa and tudor, that function in posterior and germ-cell determination. We report here that a targeted mutation in Tudor domain containing 1Tudor domain containing 1/mouse tudor repeat 1 (Tdrd1Tdrd1/Mtr-1), a tudor-related gene in mice, leads to male sterility because of postnatal spermatogenic defects. TDRD1/MTR-1 predominantly localizes to nuage/germinal granules, an evolutionarily conserved structure in the germ line, and its intracellular localization is downstream of mouse vasa homologuemouse vasa homologue/DEAD box polypeptide 4 (MvhMvh/Ddx4), similar to Drosophila vasaDrosophila vasa-tudor. Tdrd1/Mtr-1 mutants lack, and MvhMvh/Ddx4 mutants show, strong reduction of intermitochondrial cement, a form of nuage in both male and female germ cells, whereas chromatoid bodies, another specialized form of nuage in spermatogenic cells, are observed in Tdrd1/Mtr-1 mutants. Hence, intermitochondrial cement is not a direct prerequisite for oocyte development and fertility in mice, indicating differing requirements for nuage and/or its components between male and female germ cells. The result also proposes that chromatoid bodies likely have an origin independent of or additional to intermitochondrial cement. The analogy between MvhMvh-Tdrd1 in mouse spermatogenic cells and vasavasa-tudor in Drosophila oocytes suggests that this molecular pathway retains an essential role(s) that functions in divergent species and in different stages/sexes of the germ line.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Oct. 20, 2006, 1:13 p.m. by: hsueh   email:
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last update: Oct. 20, 2006, 1:13 p.m. by: hsueh    email:



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