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We have detected deletions of a Y-specific microsatellite marker, Yfm1, located on the Y chromosome (Yq) within interval 6 and near the DAZ (deleted in azoospermia) genes, in 9/89 oligospermic and 17/68 azoospermic Japanese men. No Yfm1 deletions were detected in the 150 normal fertile males examined as controls. Yfm1 deletions in the oligo- and azoospermic males were associated with other deletions that removed entire DAZ genes in those infertile men. These deletions indicated that all Yfm1 loci are located within azoospermia factor c (AZFc) in interval 6 on the long arm of the Y chromosome. Mapping Yfm1 on the Y chromosome using the draft sequence of the human genome revealed that at least three Yfm1 loci are located within about 25–30 kbp of the DAZ genes. Moreover, the Yfm1 marker showed the least number of copies in Japanese males derived from a Y chromosomal lineage called haplotype II, defined by having the Y Alu polymorphism (YAP) insertion. Males from this haplotype II lineage are known from our previous studies to have lower spermatogenic abilities, with higher rates of oligo- and azoospermia than other haplotypes. The least number of Yfm1 loci, whose copy number may correspond to that of the DAZ genes, may be a risk factor predisposing an individual to azoospermia or oligospermia. [ABSTRACT FROM AUTHOR]

α-ketoadipic aciduria is an inborn error of metabolism caused by a defect in the oxidative decarboxylation of 2-oxoadipate derived from lysine, tryptophan and hydroxylysine. Of 12 cases described with this disorder, several have been asymptomatic. There is therefore a great interest in this clinical heterogeneity. We describe an asymptomatic case (female) of α-ketoadipic aciduria detected during a pilot study of neonatal urine screening for 22 inborn errors of metabolism in Japan. The concentrations of 2-aminoadipate and 2-oxoadipate in her urine at the age of 4 days were 0.18 and 0.14 mol/mol creatinine, and at the age of 36 days 1.24 and 0.46 mol/mol creatinine. The concentrations of 2-hydroxyadipate and glutarate were also increased in both urine specimens. In spite of the continued presence of these biochemical abnormalities, the infant did not show any neurological or physical abnormalities by 118 days. Detection and careful monitoring of cases with this inborn error of metabolism should be useful for evaluating the relation of the defect to disease conditions in α-ketoadipic aciduria. [ABSTRACT FROM AUTHOR]

- Intravesical instillations of Tokyo 172 strain BCG were given to 56 patients with superficial bladder cancer during the 24-month period after transurethral tumour resection as a prophylaxis against tumour recurrence. The recurrence rate of tumours was compared with that of historical controls. Results were estimated by the person-years method and there were statistically significant decreases in recurrent tumours following BCG therapy. Our results suggest that the intravesical Tokyo 172 strain BCG is effective and safe as a prophylaxis against the recurrence of superficial bladder tumours. [ABSTRACT FROM AUTHOR]

We report a case of leiomyoma of the seminal vesicle in a 74-year-old man who presented with left hemilumbago. Computed tomography and magnetic resonance imaging revealed a mass containing coarse calcification and low signal intensity areas on T1- and T2-weighted images. The clinical features of previously reported cases of leiomyoma of the seminal vesicle are presented, including those of the present case. There remains a lack of consensus regarding surgical resection of leiomyoma of the seminal vesicle. [ABSTRACT FROM AUTHOR]

This article reports on the assignment of glycine decarboxylase (Gldc) encoding glycine decarboxylase to mouse chromosome 19C by in situ hybridization and a CA repeat polymorphism in the Gldc gene. The glycine cleavage multi-enzyme system consists of four individual components referred to as P-, T-, H-, and L-proteins, and is the main catabolic pathway of glycine in vertebrates. The location of 6/dc in the mouse genome extends the region of homology between mouse chromosome 19 and human chromosome 9.

Several case-control studies have investigated whether Y chromosome haplogroups or deletions are associated with spermatogenic failure. However, the relationships between Y chromosome haplogroups or deletions and semen quality in general population have not been elucidated. In this study, we assessed relationships between Y chromosome haplogroups or deletions and semen parameters in 791 fertile Japanese men and 1221 young men from the general Japanese population. We found that the haplogroup D2 (M55 lineage) was significantly associated with lower semen parameters, especially total motile sperm count (P = 0.00051, beta = -0.097), in men from the general population but not in fertile men. In addition, we found that the gr/gr subdeletion was associated with semen quality and in particular, strongly associated with decreased sperm motility (P = 0.00041, beta = -3.14) and total motile sperm count (P = 0.00031, beta = -0.099) in men from the general population but not in fertile men. The combined analysis of fertile Japanese men and men from the general Japanese population showed that the haplogroup D2 (M55 lineage) and the gr/gr subdeletion were strongly associated with reduced sperm motility (P = 0.00056, beta = -2.71, and P = 7.7 × 10(-5), beta = -3.05, respectively) and that haplogroup O2b1 was strongly associated with elevated sperm motility (P = 0.00089, beta = 2.94). These observations add further support for the view that the gr/gr subdeletion diminishes sperm motility that consequently may result in male infertility., (© 2014 by the Society for the Study of Reproduction, Inc.)

Several studies have investigated whether particular Y chromosome haplogroups are associated with spermatogenic failure in Japanese males; however, they produced differing results. In this study, to investigate the association of Y chromosome haplogroup with spermatogenic failure, we recruited 451 infertile patients and 730 fertile men from a Japanese population and typed their Y chromosome haplogroups. The infertile patients were suffering from varicocele, azoospermia, oligozoospermia, asthenozoospermia, obstructive azoospermia, karyotype abnormalities, microdeletions of the long arm of the Y chromosome, or other conditions that affect fertility. The frequency of haplogroup D2* was significantly higher (odds ratio = 2.28, 95% confidence interval = 1.44-3.61, P = 0.00034 using chi-square test) among the men with azoospermia than among the fertile men. None of the other Y haplogroups displayed associations with particular types of infertility. In conclusion, Y chromosome haplogroup D2* is associated with spermatogenic failure in Japanese males, suggesting that the Y chromosome lineage can have significant effects on spermatogenesis.

We previously performed a survey of the sperm characteristics of the partners of pregnant women in four cities in Japan. In the present study, we analyzed the sperm characteristics of these subjects and the correlations between these sperm characteristics and climatic changes or Y chromosome haplogroups. Our results showed that more haplogroup D2a1 males than O2b1 males were born in the first half of the year (January to June), whereas more O2b1 males were born in the last half of the year (July to December) (P<0.05). This was agreed and correlated with the seasonal variations in their mean sperm concentrations. The haplogroup C, D* and D2a1 males displayed lower sperm concentrations from March to May, followed by an increase in their sperm concentrations starting in June or July, while the O2b1 males displayed higher sperm concentrations in the first half of the year followed by a sudden decrease from July to August (P<0.05). We hypothesize that the Japanese climate has different effects on the sperm characteristics and reproductive seasonality of males from different lineages; and therefore, has influenced the modern population of Japan.