Hybrid approach reveals details about genes involved in Meier-Gorlin syndrome
Meier-Gorlin syndrome, or MGS, is a rare genetic developmental disorder that causes dwarfism, small ears, a small brain, missing patella and other skeletal abnormalities. In severe cases, MGS results in miscarriages and stillbirths.
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) substi
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