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Monday, December 14, 2020

A human gene placed in fruit flies reveals details about a human developmental disorder

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. One mutation causing MGS, first reported in 2017, is a Lysine 23 to Glutamic acid (K23E) substitution in the gene for Orc6. Researchers have now put that mutant human gene into fruit flies to probe the function of Orc6 K23E.

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