R. P. Bansal

Screening of genotypes of menthol mint Mentha arvensis for high yields of herbage and essential oil under late cropping conditions of the sub-tropical Indo-Gangetic plains

SummaryThe essential oil yields and expression of related characters were compared for seven cultivar genotypes of menthol mint Mentha arvensis using two methods of planting in the winter rabi – summer season (October to July) in a sub-tropical agroclimatic environment. The crops of all the cultivars were planted in the field by (1) sowing of suckers on 2 January and (2) transplanting germinated pieces of sucker at different times between 17 March to 14 April. Staggering of transplanting time up to 7 April did not affect oil yields and the related plant growth properties of mint crops. The oil yields of the crops planted on 14 April were lower by about 30%. In the early sucker planted crops, the oil yields were about 30% higher than those obtained from the transplanted crops of 17 March to 7 April and about double that obtained from crops transplanted on 14 April. The oil yields from the crops of the superior genotype Kosi were equal to or higher than the corresponding means of all genotypes under both pl...

Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis.

Congenital tooth agenesis in human is characterized by failure of tooth development during tooth organogenesis. 300 genes in mouse and 30 genes in human so far have been known to regulate tooth development. However, candidature of only 5 genes viz. PAX9, MSX1, AXIN2, WNT10A and EDA have been experimentally established for congenitally missing teeth like hypodontia and oligodontia. In this study an Indian family with multiple congenital tooth agenesis was identified. Pattern of inheritance was apparently autosomal dominant type with a rare possibility to be X-linked. Whole genome sequencing of two affected individuals was carried out which revealed 119 novel non-synonymous single nucleotide variations (SNVs) distributed among 117 genes. Out of these only one variation (c.956G>T) located at exon 9 of X-linked EDA gene was considered as pathogenic and validated among all the affected and unaffected family members and unrelated controls. This variation leads to p.Ser319Ile change in the TNF homology domain of EDA (transcript variant 1) protein. In silico analysis predicts that this Ser319 is well conserved across different vertebrate species and a part of putative receptor binding site. Structure based homology modeling predicts that this amino acid residue along with four other amino acid residues nearby, those when mutated known to cause selective tooth agenesis, form a cluster that may have functional significance. Taken together these results suggest that c.956G>T (p.Ser319Ile) mutation plausibly reduces the receptor binding activity of EDA leading to distinct tooth agenesis in this family.

A novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia

Several studies on experimental animals indicate that the process of organogenesis crucially depends upon the spatiotemporal dose of certain critical bio-molecules. Tooth development is also not an exception. While most of the knowledge regarding the molecular mechanism of tooth development comes from the studies on mouse model, pathogenic variations identified in human tooth agenesis also provide valuable information on mammalian tooth development. Until now five major candidate genes have been identified for tooth agenesis in human. Among them, PAX9 plays the crucial role in tooth development and in non-syndromic congenital tooth agenesis. In this study, microsatellite and SNP based genotyping identifies a disease specific haplotype block, which includes PAX9 gene, segregates with autosomal dominant tooth agenesis phenotype. Direct sequencing of PAX9 identifies a novel heterozygous G to A transition at the third base (c.3G>A) of initiation codon leading to ATG to ATA shift in all affected individuals which is absent in all unaffected relatives and 200 control chromosomes. Further, in vitro functional analysis creating PAX9 minigene construct did apparently show no effect on the splice-site migration. It is therefore proposed that haploinsufficiency of PAX9 is the causal factor for tooth agenesis in this family.

Identification and characterization of disease causing genetic variant by conventional genotyping and whole genome sequencing in familial tooth agenesis

Background Congenital tooth agenesis (CTA), a type of craniofacial disorders affects approximately 20% (including 3 molar or Wisdom teeth) and 2-10% (excluding 3 molar) of the world population. Five major candidate genes known to be associated with syndromic and non-syndromic CTA, these are PAX9, MSX1, AXIN2, EDA and WNT10A. The present investigation was undertaken to identify and characterize disease causing genetic variant by conventional genotyping and whole genome sequencing in familial tooth agenesis

Oral rehabilitation of segmental mandibulectomy patient with osseointegrated dental implant.

Surgical management of oral cancer lesions results in explicit aesthetic and functional disfigurement, including facial deformity, loss of hard and soft tissue, impaired speech, swallowing and mastication, which modify the patients self-image and quality-of-life. Recent advances in head and neck reconstruction techniques and dental implant based prosthetic rehabilitation may significantly improve the quality-of-life and self-esteem for such post-surgery patients. This clinical report describes rehabilitation of oral cancer patient having segmental mandibulectomy with implant-supported fixed partial denture.