'VIT1', a novel gene associated with vitiligo

Pigment Cell Res. 2001 Dec;14(6):475-84. doi: 10.1034/j.1600-0749.2001.140608.x.

Abstract

To define genes associated with the pigmentary disorder vitiligo, gene expression was compared in non-lesional melanocytes cultured from three vitiligo patients and from three control melanocyte cultures by differential display. A basic local alignment search tool search did not reveal homology of six differentially expressed cDNA fragments to previously identified expressed sequence tags; thus, one was used to screen a melanocyte cDNA library. The underlying VIT1 gene maps to chromosome 2p16. The 3' portion of the VIT1 message is complementary to the 3' end of hMSH6 mRNA, enabling the formation of RNA-RNA hybrids, which may interfere with G/T mismatch repair function. Moreover, the aligned cDNA sequence revealed an open reading frame identical to a hypothetical protein expressed in brain, with a similarity to Drosophila calmodulin, and containing a zinc-finger motif partially identical to N-recognin. Expression of ORF mRNA was confirmed for multiple skin cell types, suggesting its importance for skin physiology.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Calmodulin / genetics*
  • Calmodulin / metabolism
  • Cells, Cultured
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Drosophila Proteins / genetics*
  • Drosophila Proteins / metabolism
  • F-Box Proteins
  • Female
  • Fungal Proteins / genetics
  • Fungal Proteins / metabolism
  • Gene Expression Profiling
  • Gene Expression Regulation / genetics*
  • Gene Library
  • Humans
  • Infant, Newborn
  • Ligases*
  • Male
  • Melanocytes / metabolism*
  • Melanocytes / pathology
  • Molecular Sequence Data
  • Open Reading Frames / genetics
  • Protein-Arginine N-Methyltransferases
  • RNA, Messenger / genetics
  • Saccharomyces cerevisiae Proteins*
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid
  • Skin / metabolism*
  • Skin / pathology
  • Ubiquitin-Protein Ligases*
  • Vitiligo / genetics*
  • Vitiligo / metabolism
  • Vitiligo / physiopathology
  • Zinc Fingers / genetics

Substances

  • Calmodulin
  • DNA-Binding Proteins
  • Drosophila Proteins
  • F-Box Proteins
  • Fungal Proteins
  • G-T mismatch-binding protein
  • RNA, Messenger
  • Saccharomyces cerevisiae Proteins
  • FBXO11 protein, human
  • Protein-Arginine N-Methyltransferases
  • UBR1 protein, S cerevisiae
  • Ubiquitin-Protein Ligases
  • Ligases

Associated data

  • GENBANK/AL117620
  • GENBANK/U73737