Accurate measurement of gene copy number for human alpha-defensin DEFA1A3

Khan, Fayeza F.; Carpenter, Danielle; Mitchell, Laura; Mansouri, Omniah; Black, Holly A.; Tyson, Jess; Armour, John A.L.

doi:10.1186/1471-2164-14-719

All Outputs (5)

Archaeal Hel308 suppresses recombination through a catalytic switch that controls DNA annealing (2023)
Journal Article

Hel308 helicases promote genome stability in archaea and are conserved in metazoans, where they are known as HELQ. Their helicase mechanism is well characterised, but it is unclear how they specifically contribute to genome stability in archaea. We s... Read More about Archaeal Hel308 suppresses recombination through a catalytic switch that controls DNA annealing.

Evolution of genome architecture in archaea: spontaneous generation of a new chromosome in Haloferax volcanii (2018)
Journal Article

The common ancestry of archaea and eukaryotes is evident in their genome architecture. All eukaryotic and several archaeal genomes consist of multiple chromosomes, each replicated from multiple origins. Three scenarios have been proposed for the evol... Read More about Evolution of genome architecture in archaea: spontaneous generation of a new chromosome in Haloferax volcanii.

Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity (2017)
Journal Article

Background Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on... Read More about Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.

Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes (2015)
Journal Article

The human salivary amylase genes display extensive copy number variation (CNV), and recent work has implicated this variation in adaptation to starch-rich diets, and in association with body mass index. In this work, we use paralogue ratio tests, mic... Read More about Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3 (2013)
Journal Article

Background: Multi-allelic copy number variants include examples of extensive variation between individuals in the copy number of important genes, most notably genes involved in immune function. The definition of this variation, and analysis of its i... Read More about Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.