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There is a series of papers showing that a human-specific gene, ARHGAP11B, arose through gene duplication and subsequent further mutation, and that it increases amplification of basal progenitor cells in the devoping brain. Recently it was shown, to me even mor surprisingly, that the product of this gene is active in mitochondria. What could have been just junk became important.
For more see
Florio M, Namba T, Pääbo S, Hiller M, Huttner WB. A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification. Sci Adv. 2016;2(12):e1601941. Published 2016 Dec 7. doi:10.1126/sciadv.1601941
Kalebic N, Gilardi C, Albert M, et al. Human-specific ARHGAP11B induces hallmarks of neocortical expansion in developing ferret neocortex. Elife. 2018;7:e41241. Published 2018 Nov 28. doi:10.7554/eLife.41241
Namba T, Dóczi J, Pinson A, et al. Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis. Neuron. 2020;105(5):867-881.e9. doi:10.1016/j.neuron.2019.11.027
There is a series of papers showing that a human-specific gene, ARHGAP11B, arose through gene duplication and subsequent further mutation, and that it increases amplification of basal progenitor cells in the devoping brain. Recently it was shown, to me even mor surprisingly, that the product of this gene is active in mitochondria. What could have been just junk became important.
For more see
Florio M, Namba T, Pääbo S, Hiller M, Huttner WB. A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification. Sci Adv. 2016;2(12):e1601941. Published 2016 Dec 7. doi:10.1126/sciadv.1601941
Kalebic N, Gilardi C, Albert M, et al. Human-specific ARHGAP11B induces hallmarks of neocortical expansion in developing ferret neocortex. Elife. 2018;7:e41241. Published 2018 Nov 28. doi:10.7554/eLife.41241
Namba T, Dóczi J, Pinson A, et al. Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis. Neuron. 2020;105(5):867-881.e9. doi:10.1016/j.neuron.2019.11.027
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