SEQUENCE AND STRUCTURE OF THE HUMAN OXA1L GENE AND ITS UPSTREAM ELEMENTS

The genes encoding proteins involved in respiratory chain assembly rep resent candidate genes for nuclearly-encoded multiple respiratory chai n deficiency. Using the long PCR amplification procedure, we have char acterized the organization and complete sequence of OXA1L, a gene invo lved in the assembly of several complexes of the mitochondrial respira tory chain. The OXA1L gene (5 kb) is composed of 10 exons and 9 intron s and contains a 24 N-terminal amino-acid stretch is characteristic of a mitochondrial presequence. The screening of OXA1L mutation in patie nts with multiple respiratory chain deficiency is now feasible.