Humanin基因的假基因化普遍存在于若干脊椎动物的线粒体DNA中

Abstract

In the human the peptide Humanin is produced from the small Humanin gene which is embedded as a gene-within-a-gene in the 16S ribosomal molecule of the mitochondrial DNA (mtDNA). The peptide itself appears to be significant in the prevention of cell death in many tissues and improve cognition in animal models. By using simple data mining techniques, it is possible to show that 99.4% of the human Humanin sequences in the GenBank database are unaffected by mutations. However, in other vertebrates, pseudogenization of the Humanin gene is a common feature; occurring apparently randomly in some species and not others. The persistence, or loss, of a functional Humanin gene may be an important factor in laboratory animals, especially if they are being used as animal models in studies of Alzheimer's disease (AD). The exact reason why Humanin underwent pseudogenization in some vertebrate species during their evolution remains to be determined. This study was originally planned to review the available information about Humanin and it was a surprise to be able to show that pseudogenization has occurred in a gene in the mtDNA and is not restricted solely to chromosomal genes.

The Role of Mitochondria-Derived Peptides in Cardiovascular Diseases and Their Potential as Therapeutic Targets

“…This polypeptide is conserved across species and involved in cell protection, antiapoptosis, anti-inflammation and anti-oxidation, regulating mitochondrial biogenesis and functions [13][14][15], and activation of chaperon-mediated autophagy (via interaction with HSP90 (heat shock protein 90)) [13]. Wider investigation of different genomes provided data that the Humanin genes in many species are under pseudogenization but not in humans [16]. Furthermore, closer examination of the genomes of mice suggests that some nuclear genes could produce different Humanin-like peptides in different tissues and in different developmental stages and be involved in the regulation of mitochondria biogenesis [17].…”

Regulation of Antioxidant Defenses, DNA Damage Repair, the Immune Response, and Neuroprotection During Hibernation in the Thirteen-Lined Ground Squirrel

“…Our findings suggest another layer of regulation that may depend on the amino acid position 3; this residue appears to provide species-specificity, being different for each of the animals analyzed ( Fig. 5.1B) and showing that its conservation among evolutionary groups does not appear to be very stringent [248]. We originally postulated that sequence conservation would be higher among similar groups such as the ground squirrel hibernators compared to non-hibernators or among recently diverged mammalian groups.…”