Characterization of bacterial community structure in the rhizosphere of Triticum aestivum L.

The plant microbiome influence plant health, yield and vigor and has attained a considerable attention in the present era. In the current study, native bacterial community composition and diversity colonizing Triticum aestivum L. rhizosphere at two distant geographical locations including Mirpur Azad Kashmir and Islamabad was elucidated. Based on IonS5™XL platform sequencing of respective samples targeting 16S rRNA gene that harbor V3-V4 conserved region revealed 1364 and 1254 microbial operational taxonomic units (OTUs) at ≥97% similarity and were classified into 23, 20 phyla; 70, 65 classes; 101, 87 orders; 189,180 families; 275, 271 genera and 94, 95 species. Respective predominant phyla accounting for 97.90% and 98.60% of bacterial community were Proteobacteria, Actinobacteria, Acidobacteria, Bacteroidetes, Firmicutes, Chloroflexi and Gemmatimonadetes. Diversity indices revealed variations in relative abundance of bacterial taxa owing to distant geographical locations however predominant bacterial taxa at both locations were similar. These findings paved a way to dissect consequence of associated microbiota on future wheat production system.

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

BACKGROUND: Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. METHODS: Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing combined with RT-PCR and Sanger sequencing was used to search for a genetic cause underlying the disease phenotype. RESULTS: Whole-exome sequencing identified in all affected individuals of the family a novel donor splicing site mutation (NM_198270: c.1045 + 2T > A) in intron 4 of the gene NHS, which maps to chromosome Xp22.13. The identified mutation results in an RNA processing defect causing a 416-nucleotide addition to exon 4 of the mRNA transcript, likely producing a truncated NHS protein. CONCLUSIONS: The donor splicing site mutation NM_198270: c.1045 + 2T > A of the NHS gene is the causative mutation in this Nance-Horan Syndrome family. This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS.

An Effective Model for Prevention and Management of Type 2 Diabetes.

We developed and tested a cost-effective model for health promotion capacity building among community health volunteers (CHVs) within culturally and linguistically diverse (CALD) communities. Twenty multilingual CHVs, from CALD communities in Melbourne, underwent 3 days of education and training to deliver face-to-face education programs in their own language. Participants were instructed how to collect anthropometric data, make qualitative observations, and conduct diabetes knowledge questionnaires, before conducting mini education sessions with three members of their own community. Knowledge about diabetes among CHVs increased. CHVs were able to collect anthropomorphic data and knowledge surveys from community participants with greater participation than from outreach programs. Evidence-based data collected by CHVs could be incorporated into health education and promotion programs run by CHVs. Here we confirm that CHVs represent an effective tool for health promotion within CALD communities and have the capacity to incorporate evidence-based collection as part of their health education.

A novel WDR62 mutation causes primary microcephaly in a Pakistani family.

Autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder which mainly affects neurodevelopment. Generally, MCPH patients exhibit mild brain structural anomalies and simplified cerebral cortex, but few recently identified genes are associated with severe brain malformations. Here, we report a five generation Pakistani family with three affected individuals presenting primary microcephaly, intellectual disability, schizencephaly and hypoplasia of corpus callosum. The comparison of available clinical information led to candidate gene mapping and sequencing of WD repeat domain 62 (WDR62) gene which is mostly associated with severe brain malformations. A homozygous deletion mutation c.1143delA was detected in exon 9 of WDR62 gene, in all affected individuals, which resulted in frameshift and protein truncation (p.H381PfsX48). This study supports the frequent involvement of WDR62 in patients with gross brain malformations.

16S metagenomics dataset of Zea mays and Triticum aestivum rhizosphere from Kallar Syedan Punjab, Pakistan.

Plant microbiome referred to as plant second genome, plays pivotal role in determination of vigor and productivity of plant. Current high-throughput sequence technologies provide remarkable insight into microbial diversity and host microbe interaction. The obtained dataset aimed to reveal the core bacterial community residing the rhizosphere of two leading cereal crops Zea mays and Triticum aestivum grown in different seasons at the same geographical area. The rhizosphere bacterial communities were explored via amplicon sequencing of V3-V4 region of 16S rRNA region using IonS5™XL sequencing platform. The classified tags for 16S rRNA from both the samples were clustered into 1502 Microbial operational taxonomic units (OTUs) at 97% similarity with 1340 OTUs in Zea mays and 1337 OTUs in Triticum aestivum. Ten bacterial phyla predominant in the rhizosphere were Proteobacteria, Actinobacteria, Firmicutes, Acidobacteria, Bacteroidetes, Chloroflexi, Gemmatimonadetes, Verrucomicrobia, Nitrospirae and Thermomicrobia. These bacterial phyla accounted for 98% and 98.9% of the OTUs in Zea mays and Triticum aestivum, respectively. Statistical analysis depicted the presence of slight variations in the relative abundance of bacterial groups residing the rhizosphere of Zea mays and Triticum aestivum. The community data produced in the present work can be used for meta-analysis studies to understand rhizosphere bacterial community of two major cereal crops. Furthermore, bacterial composition and diversity data is prerequisite for rhizosphere engineering to enhance cereal production to cope with upcoming global challenges of climate change and population growth.

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.

BACKGROUND: Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consanguineous Pakistani families with autosomal recessive primary microcephaly. METHODS: As part of a large study to detect the genetic basis of primary microcephaly in Pakistan, homozygosity mapping and DNA sequencing was used to explore the genetic basis of autosomal recessive primary microcephaly in four families. RESULTS: Four out of 100 families recruited in the study revealed linkage to the MCPH2 locus on chromosome 19, which harbor WDR62 gene. DNA sequencing in these MCPH2 linked families result in the identification of a novel nonsense mutation (p.Q648X) and three previously known mutations. CONCLUSION: Our data indicate that WDR62 mutations cause about 4% of autosomal recessive primary microcephaly in Pakistan.

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Autosomal recessive primary microcephaly (MCPH) is a rare neurological disorder, in which the patients exhibit reduced occipital frontal head circumference (>3 standard deviations) and mild-to-severe mental retardation. Autosomal recessive primary microcephaly is genetically heterogeneous and 7 loci have been reported to date. Mutations in ASPM (abnormal spindle-like, microcephaly associated) gene are the most common cause of autosomal recessive primary microcephaly in the majority of the reported families. In the current investigation, we have located and studied 21 families with autosomal recessive primary microcephaly. Genotyping using polymorphic microsatellite markers linked to 7 autosomal recessive primary microcephaly loci revealed linkage of 18 families to the MCPH5 locus. Sequence analysis of the ASPM gene in 18 linked families detected 2 novel nonsense mutations (c.2101C>T/p.Q701X; c.9492T>G/p.Y3164X) in 2 families and 2 novel deletion mutations (c.6686delGAAA/p.R2229TfsX9; c.77delG/p.G26AfsX41) in 2 other families. Three previously described mutations (c.3978G>A/p.W1326X; c.1260delTCAAGTC/p.S420SfsX32; c.9159delA/p.K3053NfsX4) were also detected in 11 families. These identified mutations extended the body of evidence implicating the ASPM gene in the pathogenesis of human hereditary primary microcephaly.

A culturally appropriate diet and lifestyle intervention can successfully treat the components of metabolic syndrome in female Pakistani immigrants residing in Melbourne, Australia.

This study was designed to test the effectiveness of a culturally appropriate diet and lifestyle intervention to treat metabolic syndrome in female Pakistani immigrants residing in Melbourne, Australia. Forty Pakistani women with metabolic syndrome (aged 20-50 years) completed a 12-week culturally appropriate diet and exercise program. Results indicate that, before intervention, participants were sedentary, taking 4000 +/- 22.6 steps per day, and had an obese-classified body mass index (BMI) of 29.2 +/- 0.46 kg/m(2) (BMI was categorized in accordance with guidelines specifically designed for Asians) and high waist circumference of 132 +/- 25.95 cm. Participants were hypertensive (systolic, 135 +/- 1.3 mm Hg; diastolic, 86 +/- 0.68 mm Hg), were dyslipidemic (total cholesterol, 6.8 +/- 0.15 mmol/L; triglycerides, 2.9 +/- 0.09 mmol/L), and had elevated blood glucose (6.4 +/- 0.33 mmol/L) and fasting blood insulin (45 +/- 6.3 microU/mL) levels. After the 12-week culturally appropriate intervention, activity increased (8600 +/- 596.7 steps per day, P < .05); and BMI (27.8 +/- 0.45 kg/m(2)), blood pressure (systolic, 125 +/- 1.4 mm Hg; diastolic, 80 +/- 0.6 mm Hg), cholesterol (5.5 +/- 0.1 mmol/L), blood glucose (5.9 +/- 0.33 mmol/L), and blood insulin (24.14 +/- 1.8 microU/mL) levels were all significantly reduced (P < .05). This study revealed that the Pakistani female migrants who had metabolic syndrome and its components can successfully be treated via a culturally appropriate diet and lifestyle intervention. The success of the current program raises the possibility that other high-risk ethnic groups can also be treated with a culturally appropriate program.