Genetic and epigenetic risk factors in assisted reproduction
Final Report Abstract
Goal 1 of our project (to determine whether ART children born small for gestational age (SGA) have an epimutation in one of the imprinted genes involved in fetal growth control) has been achieved. Goal 2 (to determine whether certain sequence variants of genes that code for key proteins of epigenetic processes occur at a higher frequency in infertile individuals compared to fertile individuals) could not be achieved, because of problems in recruiting enough patients. However, by changing our strategy, we have obtained valuable information on the expression pattern of epigenetic regulator genes during spermatogenesis. The mutation analysis of candidate genes has not revealed any bona fide mutation, but rare variants in the DNMT3L and CTCFL genes, which need further functional characterization.
Publications
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(2009) Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. Eur J Hum Genet 17:1463-70.
Wawrzik M, Spiess AN, Herrmann R, Buiting K, Horsthemke B
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(2009) Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19, Int J Androl, 2009 Oct 30. [Epub ahead of print]
Poplinski A, Tüttelmann F, Kanber D, Horsthemke B, Gromoll J
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(2009) Low frequency of imprinting defects in ICSI children born small for gestational age. Eur J Hum Genet, 17:22-29
Kanber D, Buiting K, Zeschnigk M, Ludwig M, Horsthemke B
