What is the globin gene family?
The globins are a superfamily of heme-containing globular proteins, involved in binding and/or transporting oxygen. These proteins all incorporate the globin fold, a series of eight alpha helical segments. Two prominent members include myoglobin and hemoglobin.
Where are globin genes found?
Globin Genes. The globin genes are organized into two clusters (Figure 116-6). The α-like genes are located along a 20-kb distal segment of the short arm of chromosome 16.
How many globin genes are there?
In addition to the eight functional globin genes, the globin gene clusters on both chromosome 11 and 16 contain pseudogenes which have no known function. There are four pseudogenes within the alpha globin cluster, three are located between ζ and α2 and the fourth is located 3′ to the α1 locus [18].
How are the eight human globin genes are Organised?
It is noteworthy that the genes in each cluster are in the same transcriptional orientation and are arranged, in a 5′ to 3′ direction, in the same order as their expression during development.
What is globin gene cluster?
The cluster contains three functional genes (α1, α2, and ζ2), three pseudogenes (evolutionary remnants of genes that are not expressed because of inactivating mutations that prevent production of a functional globin protein), and one gene of undetermined function (a globin-like gene without inactivating mutations).
What is globin gene switching?
The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. Mechanisms of expression switching, stage-specific activation, and repression of transcription of α- and β-globin genes are of interest from both theoretical and practical points of view.
Which human globin gene has a Paralogue that occurred by gene duplication in humans?
The human α-like globin gene cluster resides on the telomeric region of chromosome 16. The HBA2 and HBA1 genes are paralogues, i.e., set of homologous genes that have evolved from gene duplication and can be associated with a subsequent divergence of function.
How are the globin chain genes arranged?
Within each complex, the genes are all in the same 5′-3′ orientation, and are arranged in the order in which they are expressed during development. The α genes are duplicated in humans. Each α gene is approximately 4 kb long, interrupted by two small nonhomologous regions.
Which chromosomes do globin genes cluster on?
The alpha-globin gene cluster is located at the very tip of the short arm of chromosome 16. It produces the alpha-like globins, which is combined with the beta-like globins to form hemoglobin, and its mutants cause alpha-thalassemia, which is one of the most common genetic diseases.