| http://purl.uniprot.org/citations/12811541 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12811541 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12811541 | http://www.w3.org/2000/01/rdf-schema#comment | "The FATE gene maps to Xq28 where one case of a translocation breakpoint has been found in an infertile man. Moreover, the FATE promoter contains a putative SF-1-binding site, and FATE has been proposed as representing a target gene of SF-1 in testicular development or germ cell differentiation. This study presents a complete mutational screening of the FATE gene in a random group of 144 infertile males. Four polymorphisms and two mutations were found. Three of the polymorphisms, viz., 741C-->T, 905A-->C, and 3985C-->T, occurred in exon 5 and intron 2 and did not alter the deduced polypeptide. One polymorphism resulted in the conservative amino acid exchange, A10 V, in 16.0% of the patients. This substitution occurred with similar frequencies in the control groups, indicating that the mutation does not affect fertility in men or women. The two mutations caused the non-conservative amino acid substitutions S125R (patient 1) and I34T (patient 2). A family study (patient 1) revealed, however, that S125R was inherited and that a fertile male family member carried the mutation. Patient 2 did not have relevant family members who could be examined. Thus, this study has shown that only 1.4% of infertile men have mutations in the FATE gene, and that some of these mutations do not singly cause infertility. Hence, FATE may not play an important role in the disease-state of infertile men attending fertility clinics. However, FATE mutations cannot be excluded as being a contributing factor in some cases of male infertility."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-003-0974-9"xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-003-0974-9"xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Tommerup N."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Tommerup N."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Olesen C."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Olesen C."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Eiberg H."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Eiberg H."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Lindenberg S."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Lindenberg S."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Petersen K."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Petersen K."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Ernst E."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Ernst E."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Silber J."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/author | "Silber J."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/pages | "195-201"xsd:string |
| http://purl.uniprot.org/citations/12811541 | http://purl.uniprot.org/core/pages | "195-201"xsd:string |