The second human βB2-crystallin gene is a pseudogene

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Abstract

Comparison of the partial sequences of the human βB2-1- and βB2-2-crystallin genes with orthologous rat or calf sequences shows that the fourth exon sequence of the human βB2-2 gene contains a one triplet deletion and a mutated splice acceptor site. No transcripts from the βB2-2-crystallin gene could be detected in the human lens. These data suggest that the human βB2-2-crystallin gene is a pseudogene.

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    This feature is conserved among all mammals, birds and frogs. In man, a partly duplicated Crybb2 gene was found; however, no transcripts of this particular gene could be detected, therefore, it is referred to as a pseudogene (Brakenhoff et al., 1992). In mouse and man, the Cryb genes are distributed among three chromosomes; Cryba4/Crybb1 and Crybb2/Crybb3 form a pair-wise cluster on the same chromosome separated by ∼1 MB and a few other genes (Table 4).

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