Conserved mutations in human ferritin H pseudogenes: a second functional sequence or an evolutionary quirk?

ABSTRACT

This paper describes a search for a second functional human ferritin H gene in a collection of genomic clones. Nine new H-like sequences have been mapped to chromosomes 1p22-31, 1q32-42, 2q32-33, 3q21-23, 13q12, 14, 17p11-pter and X. These were examined for evidence of possible functionality by sequencing and by searching for possible introns. All except an uncharacterized sequence on chromosome 13 appear to be processed pseudogenes. However, nearly all share several conserved differences with the known functional sequence. These differences occur at regions of unusual structure. It is not known whether these sequences are derived from a second functional gene or from site-specific mutations in the generation of pseudogenes from the known functional gene. We also show that several hominoids contain H gene families with similar complexities to humans and that most of the human genes have counterparts in chimpanzees and gorillas.