Searching for candidate genes for male infertility.
OBJECTIVE
We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list known and predicted gene sequences and provide related information such as gene function, tissue expression, known mutations and single nucleotide polymorphisms (SNPs).


RESULTS
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. We indicate how information derived from the human genome databases can be used to confirm these candidate genes may be pathogenic by studying RNA expression in tissue arrays using in situ hybridization and gene sequencing.


CONCLUSIONS
The paper explains the new approach to discovering genetic causes of male infertility using information about the human genome.
Truong
B N
BN
Melbourne IVF Centre, Department of Obstetrics and Gynaecology, Royal Women's Hospital, University of Melbourne, Victoria 3053, Australia. b.truong@ugrad.unimelb.edu.au
Moses
E K
EK
Armes
J E
JE
Venter
D J
DJ
Baker
H W G
HW
D047390:Casein Kinase II; D002874:Chromosome Mapping; D030541:Databases, Genetic; D005821:Genetic Techniques; D015894:Genome, Human; D006801:Humans; D017403:In Situ Hybridization; D007248:Infertility, Male / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011506:Proteins; D012333:RNA, Messenger / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics
C481351:BOLL protein, human; C081088:DMWD protein, human; D011506:Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; D047390:Casein Kinase II; D017346:Protein Serine-Threonine Kinases