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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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1432-1203

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Mutational analysis of the human FATE gene in 144 infertile men

Authors: Christian Olesen, Joachim Silber, Hans Eiberg, Erik Ernst, Karsten Petersen, Svend Lindenberg, Niels Tommerup,

Publish Date: 2003/06/14
Volume: 113, Issue:3, Pages: 195-201
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Abstract

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.This work was supported by the The Danish Environmental Research Programme, The Danish Medical Research Council (9700832), Novo Nordisk Foundation, Deutsche Bundesministerium für Forschung und Technologie (01KW99087) and the EU-Commission (BMH4-CT97–2268). Wilhelm Johannsen Centre for Functional Genome Research is established by the Danish National Research Foundation.


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