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Sperm motility is vital to human reproduction. Malformations of sperm flagella can cause male infertility. Men with multiple morphological abnormalities of the flagella (MMAF) have abnormal spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. The known human MMAF-associated genes, such as DNAH1, only account for fewer than 45% of affected individuals. Pathogenic mechanisms in the genetically unexplained MMAF remain to be elucidated. Here, we conducted genetic analyses by using whole-exome sequencing and genome-wide comparative genomic hybridization microarrays in a multi-center cohort of 30 Han Chinese men affected by MMAF. Among them, 12 subjects could not be genetically explained by any known MMAFassociated genes. Intriguingly, we identified compound-heterozygous mutations in CFAP43 in three subjects and a homozygous frameshift mutation in CFAP44 in one subject. All of these recessive mutations were parentally inherited from heterozygous carriers but were absent in 984 individuals from three Han Chinese control populations. CFAP43 and CFAP44, encoding two cilia-and flagella-associated proteins (CFAPs), are specifically or preferentially expressed in the testis. Using CRISPR/Cas9 technology, we generated two knockout models each deficient in mouse ortholog Cfap43 or Cfap44. Notably, both Cfap43-and Cfap44-deficient male mice presented with MMAF phenotypes, whereas the corresponding female mice were fertile. Our experimental observations on human subjects and animal models strongly suggest that biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility. Further investigations on other CFAP-encoding genes in more genetically unexplained MMAF-affected individuals could uncover novel mechanisms underlying sperm flagellar formation.

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The prevalence of depressive symptoms among the older in China was a little high, and it was varied by gender, age, area, and education level.

The prevalence and geographical distribution of the intestinal protozoa Blastocystis in humans across China is unknown, and the relative importance of different subtypes has yet to be investigated. We assessed the community prevalence and relative frequencies of different Blastocystis subtypes in four epidemiological settings in China, i.e., Shanghai municipality, Yongjia county (Zhejiang province), Eryuan county, and Menghai county (both Yunnan province). Blastocystis infection was detected with the culture method, and the subtype was identified with polymerase chain reaction using a set of subtype-specific primers. The prevalence at the four study settings was 1.9, 5.9, 18.4, and 32.6%, respectively. People aged greater than or equal to 60 years had a higher prevalence in the former two settings, Shanghai and Yongjia, whereas the highest infection rate was found among individuals aged 10-17 years in the latter two settings, Eryuan and Menghai. A higher prevalence was found in men in the former two settings but in women in the latter two settings. Five different Blastocystis subtypes were identified from the 192 isolates. Subtype 3 was the predominant type, followed by subtype 1. In conclusion, the epidemiology of Blastocystis varies across China.