Publications by authors named "Alice Pendlebury-Watt"
Article Synopsis
- Prenatal detection of copy number variants (CNVs) aids in diagnosing fetal genetic abnormalities and enhances early intervention in prenatal care.
- * Various techniques such as SNP arrays, CGH arrays, NIPT, WES, and WGS are used for CNV detection, each with unique advantages and limitations.
- * Accurate classification and interpretation of CNVs are critical for effective clinical management and addressing genetic counseling challenges, especially for variants with uncertain clinical significance.
In the present paper we have investigated the effect of mutagenesis of a number of highly conserved residues (R159, D163, L177 and L267) which we have recently shown to line the hydrophobic inhibitor/substrate cavity in the alternative oxidases (AOXs). Measurements of respiratory activity in rSgAOX expressed in Escherichia coli FN102 membranes indicate that all mutants result in a decrease in maximum activity of AOX and in some cases (D163 and L177) a decrease in the apparent Km (O2). Of particular importance was the finding that when the L177 and L267 residues, which appear to cause a bottleneck in the hydrophobic cavity, are mutated to alanine the sensitivity to AOX antagonists is reduced.
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