Biotinylation of Histones by Human Serum Biotinidase: Assessment of Biotinyl-Transferase Activity in Sera from Normal Individuals and Children with Biotinidase Deficiency

Hymes, Jeanne; Fleischhauer, Kristin; Wolf, Barry

doi:10.1006/bmme.1995.1059

Cited by 155 publications

(131 citation statements)

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“…16 Sera from all the symptomatic individuals studiedboth CRM-negative and CRM-positive-had no biotinyltransferase activity. Sera from children detected by newborn screening who were CRM-negative had no biotinyl-transferase activity, whereas a considerable number of the CRM-positive children had varying degrees of transferase activity.…”

Section: Biotinyl-transferase Activitymentioning

confidence: 91%

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Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

Wolf

2012

Genetics in Medicine

162

153

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Section: Biotinyl-transferase Activitymentioning

confidence: 91%

“…The biotinyl-binding site of biotinidase is specific for the ureido group of the biotinyl moiety of various substrates. 11,14 Biotinidase plays a role in the processing of dietary protein-bound biotin 7,15 and has been shown to transfer biotin from biocytin to nucleophiles, such as histones 16 ; the physiologic significance of the latter activity is not known.…”

mentioning

confidence: 99%

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

Wolf

2012

Genetics in Medicine

162

153

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“…Recently, it was proposed that both BTD and HCS also catalyze the biotinylation of ε-amino groups in specific lysine residues in histones [1,[8][9][10][11]. Posttranslational modifications of histones have distinct functions in chromatin metabolism.…”

Section: Introductionmentioning

confidence: 99%

“…While the physiological roles of histone biotinylation are under investigation, there is increasing evidence that histone biotinylation plays a role in DNA repair [14], gene silencing and heterochromatin structures in human cells [15] and stress resistance and life span in Drosophila [16,17]. Biotinylation of histones is mediated by both HCS [1,16] and BTD [8], but evidence has been provided that HCS is the dominant histone-biotinyl ligase [16].…”

Section: Introductionmentioning

confidence: 99%

“…First, the availability of substrate might favor either biotinylation or debiotinylation of histones. For example, locally high concentrations of biocytin might shift the reaction equilibrium toward biotinylation of histones [8,19]. Second, proteins may interact with BTD at the chromatin level, favoring either biotinylation or debiotinylation of histones.…”

Section: Introductionmentioning

confidence: 99%

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Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase

Kobza¹,

Chaiseeda²,

Sarath³

et al. 2008

The Journal of Nutritional Biochemistry

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M.; and Zempleni, Janos, "Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase" (2008 Abstract Posttranslational modification of histones by biotinylation can be catalyzed by both biotinidase (BTD) and holocarboxylase synthetase. Biotinylation of histones is an important epigenetic mechanism to regulate gene expression, DNA repair, and chromatin remodeling. The role of BTD in histone biotinylation is somewhat ambiguous, given that BTD also catalyzes removal of the biotin tag from histones. Here, we sought to develop BTD inhibitors for future studies of the role of BTD in altering chromatin structure. We adopted an existing colorimetric BTD assay for use in a novel 96-well plate format to permit high-throughput screening of potential inhibitors. Biotin analogs were chemically synthesized and tested for their ability to inhibit human BTD. Seven of these compounds inhibited BTD by 26-80%. Biotinyl-methyl 4-(amidomethyl)benzoate had the largest effect on BTD, causing an 80% inhibition at 1 mM concentration. Enzyme kinetics studies were conducted to determine V max , K m and K i for the seven inhibitors; kinetics were consistent with the hypothesis that biotinyl-methyl 4-(amidomethyl)benzoate and the other compounds acted by competitive inhibition of BTD. Finally, biotinyl-methyl 4-(amidomethyl) benzoate did not affect biotin transport in human cells, suggesting specificity in regard to biotin-related processes.

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Profound biotinidase deficiency in two asymptomatic adults

et al. 1997

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Biotinidase deficiency is an autosomal-recessive disorder of biotin recycling. Children with profound biotinidase deficiency usually have neurological and cutaneous symptoms in early childhood, but they may not develop symptoms until adolescence. We now report on a man and a woman with profound biotinidase deficiency who are asymptomatic and who were diagnosed only because their biotinidase-deficient children were identified by newborn screening. These adults have never exhibited symptoms of the disorder and are homozygous for two different mutations resulting in different aberrant enzymes. There is no evidence of an increased dietary intake of biotin to explain why they have remained asymptomatic. Although these adults may still be at risk for developing symptoms, they could represent a small group of individuals with profound biotinidase deficiency who will never develop clinical problems. Their lack of symptoms suggests that there are probably epigenetic factors that protect some enzyme-deficient individuals from developing symptoms. These individuals broaden the spectrum of expression of biotinidase deficiency.

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Biotinylation of Histones by Human Serum Biotinidase: Assessment of Biotinyl-Transferase Activity in Sera from Normal Individuals and Children with Biotinidase Deficiency

Cited by 155 publications

References 0 publications

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase

Profound biotinidase deficiency in two asymptomatic adults

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