A Human Gene Placed in Fruit Flies Reveals Details About a Human Developmental Disorder
Published:16 Dec.2020 Source:University of Alabama at Birmingham
Igor Chesnokov, Ph.D., and his University of Alabama at Birmingham colleagues study this recessive, autosomal disorder in an unusual way -- by placing mutant human genes into fruit flies. Specifically, they look at one of the genes involved in MGS called Orc6.
In a study published in Genetics, featured as a highlighted article, they used this animal model to probe the function of one human Orc6 mutation -- a Lysine 23 to Glutamic acid (K23E) substitution -- that was first reported in 2017. In people with MGS, the K23E mutation causes a similar observable developmental disorder as an Orc6 mutation that the Chesnokov team previously studied, Tyrosine 225 to Serine (Y225S) substitution.