The allele MICB0050204, over-represented in the Caucasian population, has an additional exon resulting from a new splice junction sequence

Human Immunology(2007)

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摘要
We report that the allele MICB*005020411The names MICB*0050202 and MICB*005004 have been officially assigned by the World Health Organization (WHO) Nomenclature Committee in December 2006. This follows the agreed policy that, subject to the conditions stated in the most recent Nomenclature Report (Marsh et al, 2004), names will be assigned to new sequences as they are identified. Lists of such new names will be published in the following WHO Nomenclature Report. 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.
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关键词
MHC,MICB,Alternative splicing
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