Mutation screening of the BOULE gene in 156 men with azoospermia or severe oligozoospermia revealed no relevant mutations; thus, mutations in BOULE can be eliminated as a major cause of impaired spermatogenesis.
As in flies and worms, disruption of the BOULE homologues leads to meiotic defects during the first meiotic division, we screened the coding region of the BOULE gene from 40 infertile men with non-obstructive azoospermia or severe oligoasthenoteratozoospermia by denaturing high-pressure liquid chromatography and direct sequencing in order to make progress in elucidating the aetiology of male infertility.
To demonstrate this in silico research, the following male infertility candidate genes were selected: (1) human BOULE, mutations of which may lead to germ cell arrest at the primary spermatocyte stage, (2) mutations of casein kinase 2 alpha genes which may cause globozoospermia, (3) DMR-N9 which is possibly involved in the spermatogenic defect of myotonic dystrophy and (4) several testes expressed genes at or near the breakpoints of a balanced translocation associated with hypospermatogenesis.