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A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected ...
The phenomenon of exonization also represents a special case of de novo gene birth, in which, for example, often-repetitive intronic sequences acquire splice sites through mutation, leading to de novo exons. This was first described in 1994 in the context of Alu sequences found in the coding regions of primate mRNAs. [23]
The rate of de novo mutations, whether germline or somatic, vary among organisms. [102] Individuals within the same species can even express varying rates of mutation. [103] Overall, rates of de novo mutations are low compared to those of inherited mutations, which categorizes them as rare forms of genetic variation. [104]
De novo mutation, a new germline mutation not inherited from either parent De novo protein design , the creation of a protein sequence that is not based on existing, natural sequences De novo protein structure prediction , the prediction of a protein's 3D structure, based only on its sequence
10q26 deletion is an extremely rare genetic syndrome caused by terminal deletion of the long arm of chromosome 10 at 10q26. [1] It is usually a de novo mutation.Symptoms can include "growth and mental retardation, microcephaly, triangular face, strabismus, hypertelorism, prominent nasal bridge, beaked or prominent nose, low-set dysplastic ears, various congenital heart defects, cryptorchidism ...
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). [1] Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote . [ 2 ]
ADNP syndrome is caused by non-inherited mutations in the ADNP gene. [10] Spanning about 40 kb of DNA, the ADNP gene maps to the chromosomal position chr20q13.13 in the human genome. [ 9 ] The protein produced from this gene helps control the activity ( expression ) of other genes through a process called chromatin remodeling .
Chromosome anomalies can be inherited from a parent or be "de novo". This is why chromosome studies are often performed on parents when a child is found to have an anomaly. If the parents do not possess the abnormality it was not initially inherited; however, it may be transmitted to subsequent generations. [citation needed]