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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

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 SF1binding site and FATE has been proposed as representing a target gene of SF1 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 160 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 nonconservative 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 14 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 diseasestate of infertile men attending fertility clinics However FATE mutations cannot be excluded as being a contributing factor in some cases of male infertilityThis 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 EUCommission BMH4CT97–2268 Wilhelm Johannsen Centre for Functional Genome Research is established by the Danish National Research Foundation

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