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Superoxide dismutase 2, mitochondrial (SOD2), also known as manganese-dependent superoxide dismutase (MnSOD), is an enzyme which in humans is encoded by the SOD2 gene on chromosome 6. [ 5 ] [ 6 ] A related pseudogene has been identified on chromosome 1.
Irwin Fridovich and Joe McCord at Duke University discovered the enzymatic activity of superoxide dismutase in 1968. [5] SODs were previously known as a group of metalloproteins with unknown function; for example, CuZnSOD was known as erythrocuprein (or hemocuprein, or cytocuprein) or as the veterinary anti-inflammatory drug "Orgotein". [6]
For individuals homozygous in the 677T variant, there is a mildly elevated risk of thromboembolism (odds ratio 1.2), [4] and stroke (odds ratio 1.26). [5] There is also an elevated risk of neural tube defects among children of individuals with the C677T polymorphism (odds ratio 1.38). [6]
The words homozygous, heterozygous, and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. Homozygous describes a genotype consisting of two identical alleles at a given locus, heterozygous describes a genotype consisting of two different alleles at a locus, hemizygous describes a genotype consisting of only a single copy of a particular gene in an ...
Runs of homozygosity (ROH) are contiguous lengths of homozygous genotypes that are present in an individual due to parents transmitting identical haplotypes to their offspring. [1] The potential of predicting or estimating individual autozygosity for a subpopulation is the proportion of the autosomal genome above a specified length, termed F ...
Ribbon drawing of the subunit 3D structure of Cu,Zn superoxide dismutase. Irwin Fridovich (August 2, 1929 – November 2, 2019) [1] was an American biochemist who, together with his graduate student Joe M. McCord, discovered the enzymatic activity of copper-zinc superoxide dismutase (SOD), [2] [3] —to protect organisms from the toxic effects of superoxide free radicals formed as a byproduct ...
A diploid population of 10 individuals, that bottlenecked down to three individuals repeatedly, resulted in all individuals homozygous. In genetics , loss of heterozygosity ( LOH ) is a type of genetic abnormality in diploid organisms in which one copy of an entire gene and its surrounding chromosomal region are lost. [ 1 ]
Mitotic recombination is a type of genetic recombination that may occur in somatic cells during their preparation for mitosis in both sexual and asexual organisms. In asexual organisms, the study of mitotic recombination is one way to understand genetic linkage because it is the only source of recombination within an individual. [1]