Inactivation of CMP- <i>N</i> -acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution

Chou, Hsun-Hua; Hayakawa, Toshiyuki; Diaz, Sandra; Krings, Matthias; Indriati, Etty; G. Leakey, Meave; Pääbo, Svante; Satta, Yoko; Takahata, Naoyuki; Varki, Ajit

doi:10.1073/pnas.182257399

Public

Inactivation of CMP- N -acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution

Published in Proceedings of the National Academy of Sciences • Aug 21, 2002

Authors:

Hsun-Hua Chou

Toshiyuki Hayakawa

Sandra Diaz

Abstract

Humans are genetically deficient in the common mammalian sialic acid N-glycolylneuraminic acid (Neu5Gc) because of an Alu-mediated inactivating mutation of the gene encoding the enzyme CMP-N-acetylneuraminic acid (CMP-Neu5Ac) hydroxylase (CMAH). This mutation occurred after our last common ancestor ...

Subject

Pseudogene

Alu element

Biology

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