Associations of homologous RNA-binding motif gene on the X chromosome (RBMX) and its like sequence on chromosome 9 (RBMXL9) with non-obstructive azoospermia.
OBJECTIVE
To investigate the associations of autosomal and X-chromosome homologs of the RNA-binding-motif (RNA-binding-motif on the Y chromosome, RBMY) gene with non-obstructive azoospermia (NOA), as genetic factors for NOA may map to chromosomes other than the Y chromosome.


METHODS
Genomic DNA was extracted using a salting-out procedure after treatment of peripheral blood leukocytes with proteinase K from Japanese patients with NOA (n=67) and normal fertile volunteers (n=105). The DNA were analyzed for RBMX by expressed sequence tag (EST) deletion and for the like sequence on chromosome 9 (RBMXL9) by microsatellite polymorphism.


RESULTS
We examined six ESTs in and around RBMX and found a deletion of SHGC31764 in one patient with NOA and a deletion of DXS7491 in one other patient with NOA. No deletions were detected in control subjects. The association study with nine microsatellite markers near RBMXL9 revealed that D9S319 was less prevalent in patients than in control subjects, whereas D9S1853 was detected more frequently in patients than that in control subjects.


CONCLUSIONS
We provide evidence that deletions in or around RBMX may be involved in NOA. In addition, analyses of markers in the vicinity of RBMXL9 on chromosome 9 suggest the possibility that variants of this gene may be associated with NOA. Although further studies are necessary, this is the first report of the association between RBMX and RBMXL9 with NOA.
Department of Urology, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. akitsuji@uro.med.osaka-u.ac.jp
Akira
A
Tsujimura
Kazutoshi
K
Fujita
Kazuhiko
K
Komori
Phanu
P
Tanjapatkul
Yasushi
Y
Miyagawa
Shingo
S
Takada
Kiyomi
K
Matsumiya
Masaharu
M
Sada
Yoshihiko
Y
Katsuyama
Masao
M
Ota
Akihiko
A
Okuyama
D000328:Adult; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D020224:Expressed Sequence Tags; D034441:Heterogeneous-Nuclear Ribonucleoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D009845:Oligospermia / Q000235:genetics*; D011110:Polymorphism, Genetic; D016601:RNA-Binding Proteins / Q000235:genetics*
D034441:Heterogeneous-Nuclear Ribonucleoproteins; D009687:Nuclear Proteins; C510272:RBMX protein, human; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins