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Related Experiment Videos

Human serum biotinidase. cDNA cloning, sequence, and characterization

H Cole1, T R Reynolds, J M Lockyer

  • 1Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298.

The Journal of Biological Chemistry
|March 4, 1994
PubMed
Summary

Researchers identified the human biotinidase gene, crucial for biotin recycling. This discovery aids in understanding and treating biotinidase deficiency, an inherited metabolic disorder affecting the nervous system and skin.

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Biotinidase (EC 3.5.1.12) is essential for biotin metabolism, catalyzing the breakdown of biocytin to biotin and lysine.
  • Biotinidase deficiency is an inherited metabolic disorder causing neurological and skin issues, treatable with biotin.
  • Understanding the biotinidase gene is key to diagnosing and managing this condition.

Purpose of the Study:

  • To isolate and characterize the human biotinidase gene.
  • To confirm the identity of the isolated cDNA and analyze its encoded protein.
  • To investigate the gene's structure and expression patterns.

Main Methods:

  • Oligonucleotide primers were designed from tryptic peptide sequences of human biotinidase.
  • Polymerase chain reaction (PCR) was used to amplify cDNA from human liver RNA.

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  • cDNA library screening, plaque hybridization, sequence analysis, Southern, and Northern blot analyses were performed.

    • Main Results:

    • A 1629-base open reading frame encoding a 543-amino acid protein, including a signal peptide, was identified.
    • The cDNA sequence matched known biotinidase peptides and was recognized by specific antibodies.
    • Southern analysis indicated biotinidase is a single-copy gene conserved in mammals, while Northern analysis showed mRNA expression in various human tissues.

    Conclusions:

    • The study successfully identified and characterized the human biotinidase cDNA.
    • This provides a molecular basis for understanding biotinidase deficiency.
    • The findings facilitate further research into biotin metabolism and related disorders.