Life Sciences Commons^™

Identification Of Inherited And De Novo Exomic Variations In An Emirati Family With Neurodevelopmental Disorders, Asmaa Samir Abdelaziz Refaey

Biology Theses

Neurodevelopmental disorders (NDDs) are a heterogenous group of disorders that affect children at any point of development and lead to mental and motor function deficits. Often, the underlying cause could be genetic and inherited. This study investigated possible genetic variations that could have led to these neurological abnormalities and other genetic disorders in an Emirati family. Whole exome sequencing (WES) was used to sequence the protein-coding regions of the genome to identify potential de novo and inherited variants that are associated with disorders in this family.

WES of DNA from the parents and ten children were performed. Several variants were …

Molecular And Physiological Assessment Of Salinity Stress Tolerance In Transgenic Arabidopsis Lines Expressing A Solanum Tuberosum Ribosome-Binding Protein, Onoud Rashed Saeed Ali Alyammahi

Biology Theses

Ribosomal proteins are highly conserved components of basal cellular organelles, primarily associated with translation of mRNA leading to protein synthesis. Additionally, some of these proteins are known to play critical role in plants RNA metabolism during stress responses, growth, and development. In this study, transgenic Arabidopsis plants expressing a ribosomal protein S27 (hereafter D26) isolated from Solanum tuberosum was subjected to NaCl-induced salinity stress conditions, to evaluate their putative stress resistance. Transgenic plants were exposed to high salinity stress, induced by 200 mM NaCl and physiological and biochemical assays were performed. The D26 transgenic plants demonstrated improved plant height and …

In Vitro Invistigation Of The Heterodimerization Between Angiotensin Ii And Thrombin Receptors, Isra Mansur Al Zamel

Biology Theses

The renin angiotensin system (RAS) through its hormone angiotensin (AngII) and the protease thrombin are two major physiological regulators of vascular and renal functions. RAS is involved in the regulation of blood pressure and water-electrolytes hemostasis, while thrombin has a crucial role in platelets activation and thrombosis. The interplay between these two systems at the physiological and the pathophysiological levels has been documented in many studies. However, such an interplay at the pharmacological level between the AngII and thrombin receptors still has not been explored. Our study aimed to explore the interplay between the AngII type 1 receptor (AT1R) and …

Testing The Combined Module Swapping And Repair By Modification Strategies: A Step Toward Universal Toolbox, Catherine A. Martini

Biology Theses

The crux of synthetic biology is the engineering of biological components to modulate the activity of specific DNA-based promoter(s) to drive gene expression; thus, providing a means to modulate pathways between signal detection and cellular response. However, the longstanding frustration of synthetic biologists has been the inability to transfer those engineered components between cellular systems — this lack of “modular universality” or “universal toolbox” impedes research by forcing a metaphorical reinvention of the wheel in new systems. The modular swapping strategy expanded the available “toolbox” with customizable hybrid repressors formed from “swapping” the DNA-recognition modules (DRMs) and environmental-sensing modules (ESMs) …

Short Tandem Repeats Diversity In Indian And Pakistani Population Living In United Arab Emirates, Ruksar Salim Damji

Biology Theses

Short Tandem Repeats (STRs), have become increasingly popular markers of choice due to its wide array of advantages in the sector of forensic investigation. It is necessary to expand genetic research into residing populations i.e., Indian and Pakistani, in the same geographic region such as in the United Arab Emirates (UAE). The objectives of this study were to: (1) assess the forensic efficiency parameters and population structure analysis of the autosomal STR loci for the most potent amplification kit (2) estimate the allele frequencies; and (3) determine the significance of increasing the number of STR loci used in forensic DNA …

Cloning And Expression Of Hydra Innexin 2, A Gap Junction Protein Required For Coordinated Contraction Of The Body Column, Ashley O'Brien

Biology Theses

In invertebrates gap junctions are formed by the innexin family of proteins. Remarkably, the genome of Hydra magnipapillata contains 17 innexin genes. This study focused on Hydra innexin-2 (h-Inx2) which is expressed in nerve cells and plays a role in contraction of the body column. The gene sequence of H-Inx2 was obtained from the National Center for Biotechnology Information (NCBI), the gene was synthesized externally and transferred to a vector suitable for expression in Xenopus oocytes (pcDNA3.1 CT-GFP TOPO). The TOPO CT-GFP vector includes a priming site for RNA polymerase which allows in vitro preparation of RNA. Another advantage is …

Functional Analysis Of A Critical Glycine (Glycine 12) In Beta-Type Connexins Of Human Skin, Rasheed Bailey

Biology Theses

At least five beta-type connexins are expressed in various layers of the skin (Cx26, Cx30, Cx30.3, Cx31, and Cx32) and all include a glycine residue at position 12. Glycine12 (G12) is located about halfway through the cytoplasmic amino terminus and has been the focus of several studies related to connexin diseases and gap junction channel structure. The importance of this residue is evident in the severity and diversity of diseases associated with amino acid substitutions at G12 including hereditary forms of skin disease, deafness and neuropathy. This study uses bioinformatic analysis in combination with mutational analysis and electrophysiology to better …

Assessing Population Genetic Structure Of Eastern Phoebes At A Migratory Stopover Site, Daniel Jones

Biology Theses

Migration is an energetically costly and stressful event and migratory stopover sites are important areas along the migratory route that birds stop at to rest and refuel. Migration timing and routes vary across and even within species, including differences between sexes, ages and populations. Most genetic studies of migratory birds occur on breeding grounds, but when breeding locations are not known, it is likely that genetic patterns can be assessed accurately at migratory stopover sites if certain conditions exist. First, if a species is philopatric – where individuals return to the same sites every year, gene flow across geographically separated …