Premium
Mutation analysis of GLDC , AMT and GCSH in cataract captive‐bred vervet monkeys ( Chlorocebus aethiops )
Author(s) -
Chauke Chesa G.,
Magwebu Zandisiwe E.,
Sharma Jyoti R.,
Arieff Zainunisha,
Seier Jürgen V.
Publication year - 2016
Publication title -
journal of medical primatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.31
H-Index - 42
eISSN - 1600-0684
pISSN - 0047-2565
DOI - 10.1111/jmp.12219
Subject(s) - missense mutation , vervet monkey , amino acid , genetics , biology , glycine , microbiology and biotechnology , coding region , gene , mutation , zoology
Background Non‐ketotic hyperglycinaemia ( NKH ) is an autosomal recessive inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. Methods This study describes the first screening of NKH in cataract captive‐bred vervet monkeys ( Chlorocebus aethiops) . Glycine dehydrogenase ( GLDC ), aminomethyltransferase ( AMT ) and glycine cleavage system H protein ( GCSH ) were prioritized. Results Mutation analysis of the complete coding sequence of GLDC and AMT revealed six novel single‐base substitutions, of which three were non‐synonymous missense and three were silent nucleotide changes. Conclusion Although deleterious effects of the three amino acid substitutions were not evaluated, one substitution of GLDC gene ( S44R ) could be disease‐causing because of its drastic amino acid change, affecting amino acids conserved in different primate species. This study confirms the diagnosis of NKH for the first time in vervet monkeys with cataracts.