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Updated: Mar 2, 2026

Using Phylogenetic Analysis to Investigate Eukaryotic Gene Origin
Published on: August 14, 2018
Molecular micro- and macroevolution in the primate alpha-globin gene family
1Department of Anthropology and Biology, Yale University, New Haven, Connecticut 06520.
Abstract:
Because hemoglobin is among the most abundant and accessible proteins in the human body, the molecular basis for its production is arguably the best-known genetic system in any higher organism. The hemoglobin molecule is tetrameric and consists all developmental stage of two copies of each of two components, alpha-like (141 amino acids) and beta-like (146 amino acids). The beta-like globins are located in a tight cluster on chromosome 11 and the alpha-like globins on chromosome 16. The alpha-globin cluster consists of several functional genes and nonfunctional pseudogenes, each the product of an ancient duplication of primordial genes. The cluster therefore affords us a window on the major features of molecular evolution. Within human populations hypervariable regions exist which may serve as useful genetic markers; and unequal crossing-over creates the most prevalent genotypes of alpha-thalassemia. Recently a new member of the alpha-globin cluster was discovered in the orangutan genome and then subsequently in other taxa, including Homo sapiens. It appears to encode a unique alpha-like globin, and its protein product has yet to be isolated.
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