DNAH6 is a novel candidate gene associated with sperm head anomaly.

Globozoospermia and acephalic spermatozoa are two rare sperm head anomalies associated with male infertility. Combination of the two phenotypes in the same patient is extremely rare, so the underlying pathogenesis of this disorder remains unclear. Here, we report a 35-year-old infertile male, who presented with 30% of sperm-lacked heads and 69% of sperm round-headed or small-headed with neck thickening in his ejaculate. Subsequent whole-exome sequencing (WES) analysis identified compound heterozygous variants within the DNAH6 gene. DNAH6 is a testis-specific-expressed protein that was localised to the neck region in the spermatozoa of normal control; however, immunofluorescent staining failed to detect DNAH6 protein in the patient's spermatozoa. Quantitative real-time PCR analysis also showed the complete absence of DNAH6 mRNA in the patient's spermatozoa. Moreover, two cycles of in vitro fertilisation (IVF)-assisted reproduction were carried out, but pregnancy was not achieved after embryo transfer. Therefore, rare sequence variants in DNAH6 might be susceptibility risks for human sperm head anomaly.

TSGA10 is a novel candidate gene associated with acephalic spermatozoa.

Acephalic spermatozoa is a rare teratozoospermia associated with male infertility. However, the pathogenesis of this disorder remains unclear. Here, we report a 27 years old infertile male from a consanguineous family, who presented with 99% headless sperm in his ejaculate. Electron microscopic and immunofluorescence analysis suggested breakage at the midpiece of the patient's sperm cells. Subsequent whole-exome sequencing analysis identified a homozygous deletion within TSGA10 (c.211delG; p.A71Hfs*12), which resulted in the production of truncated TSGA10 protein. TSGA10 is a testis-specific protein that localized to the midpiece in the spermatozoa of a normal control; however, immunostaining failed to detect TSGA10 protein in the patient's sperm. Western blot analysis also showed complete absence of TSGA10 protein in the patient. One cycle of in vitro fertilization-assisted reproduction was conducted, but pregnancy was not achieved after embryo transfer, possibly due to poor embryo quality. Therefore, we speculate that the presence of rare sequence variants within TSGA10 may be associated with acephalic spermatozoa in humans.

A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.

Asthenozoospermia (AZS) is a common cause of male infertility, characterized by abnormal reduction in the motility of ejaculated spermatozoa. Here, in a patient from a consanguineous family, we identified a homozygous mutation (c.G4343A, p.R1448Q) in SPAG17 by whole-exome sequencing. The encoded protein, SPAG17, localizes to the axonemal central apparatus and is considered essential for flagellar waveform. In silico analysis revealed that R1448Q is a potential pathogenic mutation. Immunostaining and western blot assays showed that the R1448Q mutation may exert a negative effect on the steady-state of the SPAG17 protein. Therefore, SPAG17 may be a new pathogenic gene causing AZS.

Anthropogenic atmospheric nickel emissions and its distribution characteristics in China.

Nickel and its compounds are considered as potential human carcinogens, and atmospheric nickel is one of the major routes for human exposure. By applying the best available fuel-based or product-based emission factors and annual activity levels, a multiple-year comprehensive inventory of anthropogenic atmospheric nickel emissions in China is presented with temporal trend and spatial resolutions for the period of 1980-2009 from both fuels combustion sources and industrial producing processes. We estimate that the total atmospheric nickel emissions from all the sources have increased from 1096.07 t in 1980 to 3933.71 t in 2009, at an average annual growth rate of 4.5%. Therein, coal combustion is the leading source, attributing 63.4% of the national total nickel emissions in 2009; liquid fuels consumption ranks the second, contributing 12.4% of the totals; biofuels burning accounts for 8.4% and the remaining sources together contribute 15.8% of the totals. Significant spatial variations are demonstrated among provincial emissions and the most concentrated regions are the highly industrialized and densely populated areas like the Yangtze River Delta, the Pearl River Delta and the Beijing-Tianjin-Hebei region. Moreover, the overall uncertainties are estimated at -32.6%-37.7% by using Monte Carlo simulation, most of which come from non-ferrous metals smelting category, implying the urgent need for further investigation and field tests. This article may help to combat the increasing stress on air heavy metals pollution in China and provide useful information to calculate global mass balance models for hazardous trace elements.