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Article

GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution

14 Jul 2020

Abstract excerpt

The gene encoding the cytosolic β-glucosidase GBA3 shows pseudogenization due to a truncated allele (rs358231) that is polymorphic in humans. Since this enzyme is involved in the transformation of many plant β-glycosides, this particular case of gene loss may have been influenced by dietary adaptations during evolution. In humans, apart from the inactivating allele, we found that GBA3 accumulated additional...

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PMID: 32665690
DOI: 10.1038/s41598-020-68106-y

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