ABSTRACT
Aims: Asthenozoospermia is the most common factor of male infertility, mainly caused by multiple morphological abnormalities of the sperm flagella (MMAF) and primary ciliary dyskinesia (PCD). Previous studies have shown that genetic factors may contribute to MMAF and PCD. The study aimed to identify novel potentially pathogenic gene mutations in a Chinese infertile man with MMAF and PCD-like phenotypes. Methods: A Chinese infertile man with MMAF and PCD was enrolled in this study. Whole exome sequencing and Sanger sequencing were performed to identify potential causative genes and mutations. Results: A novel homozygous missense mutation (c.1450G>A; p.E484K) of CCDC40 was finally identified and Sanger sequencing confirmed that the patient carried the homozygous mutation, which was inherited from his parents. We reported the first homozygous missense CCDC40 mutation in infertile men with MMAF but had other milder PCD symptoms. Conclusion: Our findings not only broaden the disease-causing mutation spectrum of CCDC40 but also provide new insight into the correlation between CCDC40 mutations and MMAF.
ABSTRACT
Auricularia heimuer is a traditional edible and medicinal mushroom, which is widely used in biochemical research and is regarded as a good dietary supplement. The color of the ear-like fruiting body is an important indicator of its commercial quality. However, the mechanism by which light intensity influences the melanin synthesis of A. heimuer remains unclear. Here, we show that fruiting body color is significantly affected by light intensity. Transcriptional profiles of the fruiting bodies of A. heimuer grown in different light intensities were further analyzed. More differentially expressed genes (DEGs) were identified with a greater light intensity difference. A total of 1388 DEGs were identified from six comparisons, including 503 up-regulated genes and 885 down-regulated genes. The up-regulated genes were mainly associated with light sensing via photoreceptors, signal transduction via the mitogen-activated protein kinase (MAPK) signaling pathway, and melanin synthesis via the tyrosine metabolic pathway. Therefore, the genes involved in these processes may participate in regulating melanin synthesis under high light intensity. This insight into the transcriptional regulation of A. heimuer to light intensity should help to further comprehensively elucidate the underlying mechanism of light-induced melanin synthesis.
Subject(s)
Agaricales , Melanins , Melanins/genetics , Agaricales/genetics , Gene Expression Profiling , Secondary MetabolismABSTRACT
The Received Signal Strength (RSS) fingerprint-based indoor localization is an important research topic in wireless network communications. Most current RSS fingerprint-based indoor localization methods do not explore and utilize the spatial or temporal correlation existing in fingerprint data and measurement data, which is helpful for improving localization accuracy. In this paper, we propose an RSS fingerprint-based indoor localization method by integrating the spatio-temporal constraints into the sparse representation model. The proposed model utilizes the inherent spatial correlation of fingerprint data in the fingerprint matching and uses the temporal continuity of the RSS measurement data in the localization phase. Experiments on the simulated data and the localization tests in the real scenes show that the proposed method improves the localization accuracy and stability effectively compared with state-of-the-art indoor localization methods.
