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Wood-rotting fungi are important components of woody plant ecosystems and play an active role in the decomposition and turnover of nutrients from wood, and are among the major groups of Basidiomycota. In this study, a new species of wood-rotting fungus, Sistotrema yunnanense, was proposed based on morphological characteristics and molecular evidence. It is characterized by resupinate basidiomata, a monomitic hyphal system having generative hyphae with clamp connections, suburniform to urniform basidia, and short-cylindrical to oblong ellipsoid basidiospores (4.5-6.5 × 3-4 μm). Phylogenetic analyses performed using the large subunit nuc rDNA indicated that S. yunnanense was nested within the genus Sistotrema s.l. of the family Hydnaceae, within the order Cantharellales. [ABSTRACT FROM AUTHOR]

Background Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterised by coarse, wiry, twisted hair developed in early childhood and subsequent progressive hair loss. MUHH is a genetically heterogeneous disorder. No gene in 1p21.1-1q21.3 region responsible for MUHH has been identified. Methods Exome sequencing was performed on two affected subjects, who had normal vertex hair and modest alopecia, and one unaffected individual from a four-generation MUHH family of which our previous linkage study mapped the MUHH locus on chromosome 1p21.1-1q21.3. Results We identified a missense mutation in EPS8L3 (NM024526.3: exon2: c.22G->A:p.Ala8Thr) within 1p21.1-1q21.3. Sanger sequencing confirmed the cosegregation of this mutation with the disease phenotype in the family by demonstrating the presence of the heterozygous mutation in all the eight affected and absence in all the seven unaffected individuals. This mutation was found to be absent in 676 unrelated healthy controls and 781 patients of other disease from another unpublished project of our group. Conclusions Taken together, our results suggest that EPS8L3 is a causative gene for MUHH, which was helpful for advancing us on understanding of the pathogenesis of MUHH. Our study also has further demonstrated the effectiveness of combining exome sequencing with linkage information for identifying Mendelian disease genes [ABSTRACT FROM AUTHOR]

Systemic lupus erythematosus (SLE) is an autoimmune disease influenced by genetic and environmental factors. Recently, single nucleotide polymorphisms (SNPs) in the region of B lymphoid tyrosine kinase (BLK) have been shown to be associated with SLE in Caucasian population. In this paper, we genotyped SNP rs2248932 in 1,396 SLE patients of Chinese Han and 4,362 ethnically matched control subjects by using the Sequenom MassArray system. We confirmed that SNP rs2248932 in BLK gene was significantly associated with SLE ( P = 1.41 × 10 for the allele frequency, Odds ratio [OR] = 0.74, 95% confidence interval (CI): 0.66–0.82).The association of BLK in Chinese SLE patients was consistent with a dominant model ( P = 8.88 × 10, OR = 0.69, 95% CI: 0.61–0.79). In contrast to the Caucasian, this risk allele was the major allele in the Chinese Han; the risk allele frequency was higher in Chinese Han than in Caucasian. We did not find the association between this SNP and any subphenotype of SLE. The SNP rs2248932 was correlated to the expression of BLK mRNA. We conclude that the association of the BLK region with SLE was replicated in Chinese Han population living in mainland. [ABSTRACT FROM AUTHOR]