Characterization of the human PANK2 promoter

Brenda J. Polster, Moon Y. Yoon, Susan J. Hayflick

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Pantothenate kinase 2 (PANK2) is an essential regulatory enzyme in coenzyme A biosynthesis. PANK2 mutations cause pantothenate kinase-associated neurodegeneration (PKAN), which leads to pigmentary retinopathy, progressive dystonia and other abnormalities. Two nearly identical PANK2 isoforms have been described: short PANK2 and mature PANK2, which are processed from a precursor isoform. Since the biological relevance of these isoforms remains unclear, we sought to explore their transcriptional regulation. Here we show that their regulation is distinct and describe a promoter for the short isoform of PANK2. Moreover, we identify potential regulators of PANK2 expression, including NF-Y, FOXN4 and the human heterogeneous nuclear ribonucleoprotein A/B family. These findings validate expression of the short PANK2 isoform and enable predictions about potentially deleterious sequence variants in the regulatory region of this human disease gene.

Original languageEnglish (US)
Pages (from-to)53-60
Number of pages8
JournalGene
Volume465
Issue number1-2
DOIs
StatePublished - Oct 1 2010

Keywords

  • FOXN4
  • HnRNPA/B
  • NF-Y
  • PKAN
  • Pantothenate kinase

ASJC Scopus subject areas

  • Genetics

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