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University of Nebraska - Lincoln
Department of Nutrition and Health Sciences: Dissertations, Theses, and Student Research
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Effects Of Single Nucleotide Polymorphisms In The Human Holocarboxylase Synthetase Gene On Catalytic Activity, Shingo Esaki
Effects Of Single Nucleotide Polymorphisms In The Human Holocarboxylase Synthetase Gene On Catalytic Activity, Shingo Esaki
Department of Nutrition and Health Sciences: Dissertations, Theses, and Student Research
Holocarboxylase synthetase (HCS) catalyzes the covalent binding of biotin to carboxylases and histones in eukaryotic cells. Biotinylated carboxylases play essential roles in the metabolism of fatty acids, amino acids, and glucose; biotinylated histones play essential roles in gene regulation and genome stability. HCS null individuals are not viable whereas HCS deficiency is linked to developmental delays and phenotypes such as short life span and low stress resistance. Greater than 2,500 single nucleotide polymorphisms (SNPs) have been reported for HCS, but the biological importance of these polymorphisms is unknown. We hypothesized that some of these SNPs impair catalytic activity and that …