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A neomorphic mutation causes a dominant gain of gene function that is different from the normal function. [1] A neomorphic mutation can cause ectopic mRNA or protein expression, or new protein functions from altered protein structure. Changing wildtype gene dose has no effect on the phenotype of a neomorph. [2] m/Df = m/+ = m/Dp
In particular, if there is a mutation in a DNA repair gene within a germ cell, humans carrying such germline mutations may have an increased risk of cancer. A list of 34 such germline mutations is given in the article DNA repair-deficiency disorder. An example of one is albinism, a mutation that occurs in the OCA1 or OCA2 gene. Individuals with ...
Also called functionalism. The Darwinian view that many or most physiological and behavioral traits of organisms are adaptations that have evolved for specific functions or for specific reasons (as opposed to being byproducts of the evolution of other traits, consequences of biological constraints, or the result of random variation). adaptive radiation The simultaneous or near-simultaneous ...
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. [1] Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation.
Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)—they are called "dominant" because a single copy—inherited from either parent—is enough to cause this trait to appear. This often means that one of the parents must also have the same trait, unless it has arisen due to an unlikely new mutation.
Genetic variation can be identified at many levels. Identifying genetic variation is possible from observations of phenotypic variation in either quantitative traits (traits that vary continuously and are coded for by many genes, e.g., leg length in dogs) or discrete traits (traits that fall into discrete categories and are coded for by one or a few genes, e.g., white, pink, or red petal color ...
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
Sickle cell disease: In a healthy individual, the HBB gene is responsible for encoding hemoglobin which carries oxygen throughout the body. [16] However, when a person has this disease due to inheriting two mutated copies of the HBB gene due to a base pair point mutation, their red blood cells are shaped differently. [16]