Organization of the human myoglobin gene.

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Abstract
Cross‐hybridization of the grey seal myoglobin gene to human DNA detected a single human myoglobin gene plus an extensive family of sequences apparently related to the central exon of this gene. The functional human gene is 10.4 kb long and has a haemoglobin‐like three exon/two intron structure with long non‐coding regions similar to its seal homologue. At least 300 bp of 5′‐flanking region are closely homologous between the two genes, with the exception of a divergent purine‐rich region 68‐114 bp upstream of the cap site. A diverged tandem repetitive sequence based on (GGAT)165 is located 1100‐1750 bp upstream from the gene; internal homology units within this sequence suggest sequence homogenization by gene microconversions. A second 33‐bp tandem repeat element in the first intron is flanked by a 9‐bp direct repeat, shares homology with other tandem repetitive elements in the human genome and may represent a novel form of transposable element.