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

Martinez-Borra, Jesus; Rodrigo, Luis; Rodriguez-Rodero, Sandra; Fernandez-Morera, Juan Luis; Diaz-Pena, Roberto; Pruneda, Laura; Lopez-Vazquez, Antonio; Lopez-Larrea, Carlos

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. (c) 2007 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

Más información

Título según WOS: ID WOS:000248799500010 Not found in local WOS DB
Título de la Revista: HUMAN IMMUNOLOGY
Volumen: 68
Número: 8
Editorial: Elsevier Science Inc.
Fecha de publicación: 2007
Página de inicio: 705
Página final: 707
DOI:

10.1016/j.humimm.2007.05.003

Notas: ISI