Identification and taxonomic position of a new Pseudoomphalina species from Pakistan based on light, scanning electron microscopy, and molecular analysis.

Khanspur, a small town located near Ayubia National Park, is a famous mountainous resort lying in Galyat area of Khyber Pakhtunkhwa. It is included in one of the richest biodiversity hotspots in the country. Despite of extensive previous studies, many new species are awaiting to be documented, including macrofungi. In this study, a new macrofungus Pseudoomphalina khanspurensis is analyzed by both light and scanning electron microscopy as well as DNA sequences based on nrITS and nrLSU regions. The sister species P. cokeri differs by its red to purple, dark to reddish brown, broadly convex to applanate pileus, purple blue to brownish stipe, and numerous cylindrical to lageniform cheilocystidia. HIGHLIGHTS: This is the first report of genus Pseudoomphalina from Pakistan and first study based on Scanning electron microscopy. These species have been described with detailed micro-morphological and molecular makers (nrITS and nrLSU). General distribution, ecology, diagnostic features and comparisons with alies have been provided. Graphical representation of DNA extraction and geographical locations of sampling sites are also illustrated. Softwares such as CIPRES Science Gateway Portal, MUSCLE, BioEdit, FigTree, Adobe illustrator and Adobe Photoshop are used in the current study. No member of this genus is already described from Pakistan.

Mutations in FYCO1 identified in families with congenital cataracts.

Purpose: This study was designed to identify the pathogenic variants in three consanguineous families with congenital cataracts segregating as a recessive trait. Methods: Consanguineous families with multiple individuals manifesting congenital cataracts were ascertained. All participating members underwent an ophthalmic examination. A small aliquot of the blood sample was collected from all participating individuals, and genomic DNAs were extracted. Homozygosity-based linkage analysis was performed using short tandem repeat (STR) markers. The haplotypes were constructed with alleles of the STR markers, and the two-point logarithm of odds (LOD) scores were calculated. The candidate gene was sequenced bidirectionally to identify the disease-causing mutations. Results: Linkage analysis localized the disease interval to chromosome 3p in three families. Subsequently, bidirectional Sanger sequencing identified two novel mutations-a single base deletion resulting in a frameshift (c.3196delC; p.His1066IlefsTer10) mutation and a single base substitution resulting in a nonsense (c.4270C>T; p.Arg1424Ter) mutation-and a known missense (c.4127T>C, p.Leu1376Pro) mutation in FYCO1. All three mutations showed complete segregation with the disease phenotype and were absent in 96 ethnically matched control individuals. Conclusions: We report two novel mutations and a previously reported mutation in FYCO1 in three large consanguineous families. Taken together, mutations in FYCO1 contribute nearly 15% to the total genetic load of autosomal recessive congenital cataracts in this cohort.

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

[This corrects the article DOI: 10.1371/journal.pone.0167562.].

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

PURPOSE: The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. METHODS: All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. RESULTS: Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. CONCLUSION: Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.

Tea and its consumption: benefits and risks.

The recent convention of introducing phytochemicals to support the immune system or combat diseases is a centuries' old tradition. Nutritional support is an emerging advancement in the domain of diet-based therapies; tea and its constituents are one of the significant components of these strategies to maintain the health and reduce the risk of various malignancies. Tea is the most frequently consumed beverage worldwide, besides water. All the three most popular types of tea, green (unfermented), black (fully fermented), and oolong (semifermented), are manufactured from the leaves of the plant Camellia sinensis. Tea possesses significant antioxidative, anti-inflammatory, antimicrobial, anticarcinogenic, antihypertensive, neuroprotective, cholesterol-lowering, and thermogenic properties. Several research investigations, epidemiological studies, and meta-analyses suggest that tea and its bioactive polyphenolic constituents have numerous beneficial effects on health, including the prevention of many diseases, such as cancer, diabetes, arthritis, cardiovascular disease (CVD), stroke, genital warts, and obesity. Controversies regarding beneficialts and risks of tea consumption still exist but the limitless health-promoting benefits of tea outclass its few reported toxic effects. However, with significant rise in the scientific investigation of role of tea in human life, this review is intended to highlight the beneficial effects and risks associated with tea consumption.