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Non-allelic homologous recombination (NAHR) is a form of homologous recombination that occurs between two lengths of DNA that have high sequence similarity, but are not alleles. [ 1 ] [ 2 ] [ 3 ] It usually occurs between sequences of DNA that have been previously duplicated through evolution, and therefore have low copy repeats (LCRs).
Gene conversion is the process by which one DNA sequence replaces a homologous sequence such that the sequences become identical after the conversion. [1] Gene conversion can be either allelic, meaning that one allele of the same gene replaces another allele, or ectopic, meaning that one paralogous DNA sequence converts another.
Allelic variation at a locus is measurable as the number of alleles (polymorphism) present, or the proportion of heterozygotes in the population. A null allele is a gene variant that lacks the gene's normal function because it either is not expressed, or the expressed protein is inactive.
These rules (patterns) are not without exceptions. Non-allelic mutants may occasionally fail to complement (this is known as "non-allelic non-complementation" or "unlinked non-complementation"). This is an uncommon occurrence that depends on the type of mutants being investigated. Two mutations, for example, could be synthetically dominant ...
Coalescent theory is a model of how alleles sampled from a population may have originated from a common ancestor.In the simplest case, coalescent theory assumes no recombination, no natural selection, and no gene flow or population structure, meaning that each variant is equally likely to have been passed from one generation to the next.
Ectopic recombination is an atypical form of recombination in which a crossing over takes place between two homologous DNA sequences located at non-allelic chromosomal positions. Such recombination often results in dramatic chromosomal rearrangement , which is generally harmful to the organism. [ 1 ]
Histone H2A is composed of non-allelic variants. [4] The term "Histone H2A" is intentionally non-specific and refers to a variety of closely related proteins that vary often by only a few amino acids. Apart from the canonical form, notable variants include H2A.1, H2A.2, H2A.X, and H2A.Z.
[13] [15] [16] Penetrance can also be age-dependent, meaning signs or symptoms of disease are not visible until later in life. For example, Huntington disease is an autosomal dominant condition, but up to 25% of individuals with the affected genotype will not develop symptoms until after age 50. [ 17 ]