The allele MICB 0050204, over-represented in the Caucasian population, has an additional exon resulting from a new splice junction sequence

Hum Immunol. 2007 Aug;68(8):705-7. doi: 10.1016/j.humimm.2007.05.003. Epub 2007 Jun 13.

Abstract

We report that the allele MICB 0050204(1) allele, present in the majority of the Spanish population (70% of healthy controls) is characterized by the presence of an extra exon found between the sequence corresponding to exon 1 and 2. This is generated by a dinucleotide polymorphism in the first MICB intron that introduces a new splice junction, which can generate, by alternative splicing, transcripts with an additional exon. This new exon contains a premature stop codon and therefore the transcript does not produce a functional protein.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alternative Splicing
  • Base Sequence
  • Codon, Nonsense / genetics*
  • Exons / genetics*
  • Histocompatibility Antigens Class I / chemistry
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Introns / genetics*
  • Molecular Sequence Data
  • Spain

Substances

  • Codon, Nonsense
  • Histocompatibility Antigens Class I
  • MICB antigen

Associated data

  • GENBANK/AY885251
  • GENBANK/EF051579
  • GENBANK/EF051580