The allele MICB 0050204, over-represented in the Caucasian population, has an additional exon resulting from a new splice junction sequence.
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.
Martínez-Borra
Jesús
J
Department of Immunology, Hospital Universitario Central de Asturias, Oviedo, Spain.
Rodrigo
Luis
L
Rodríguez-Rodero
Sandra
S
Fernandez-Morera
Juan Luis
JL
Diaz-Peña
Roberto
R
Pruneda
Laura
L
López-Vázquez
Antonio
A
López-Larrea
Carlos
C
D000483:Alleles; D017398:Alternative Splicing; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data; D013030:Spain
D018389:Codon, Nonsense; D015395:Histocompatibility Antigens Class I; C098080:MICB antigen