Exinct
Encyclopedia
In genetics
, exinct (short for "extended inhibitory context") is a mutation
. It was first described by Singh and coworkers to define a negative sequence within the coding region of SMN2
gene. Thanks to presence of Exinct, SMN2 gene is not able to produce the normal protein
. In fact, Exinct causes aberrant splicing of exon
7, leading to the production of a short SMN transcript that makes a truncated non-functional SMN protein. Inability of SMN2 to make the full-length protein causes spinal muscular atrophy
, a debilitating disease of children and infants.
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
, exinct (short for "extended inhibitory context") is a mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
. It was first described by Singh and coworkers to define a negative sequence within the coding region of SMN2
SMN2
Survival of motor neuron 2, centromeric also known as SMN2 is a protein which in humans is encoded by the SMN2 gene.- Gene :This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to...
gene. Thanks to presence of Exinct, SMN2 gene is not able to produce the normal protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
. In fact, Exinct causes aberrant splicing of exon
Exon
An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing. The mature RNA molecule can be a messenger RNA...
7, leading to the production of a short SMN transcript that makes a truncated non-functional SMN protein. Inability of SMN2 to make the full-length protein causes spinal muscular atrophy
Spinal muscular atrophy
Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
, a debilitating disease of children and infants.