In 1986 my research group at the Rockefeller University and another led by Jeffrey Hall of Brandeis University and Michael Rosbash of the Howard Hughes Medical Institute at Brandeis found that the three mutant flies had three different
alterations in a single gene named period, or per, which each of our teams had independently isolated two years earlier.
Each strain contains
an alteration in a single gene, the structure of which must be verified prior to breeding and phenotyping.
Not exact matches
But
in genes, differences as small as a point mutation — the
alteration of a
single base pair — can lead to disease.
Gene moonlighting can occur merely through changes
in expression, which may result from as little as a
single mutation; it does not require the meandering process of random
alteration and selection implied by the duplication and neofunctionalization model.
An
alteration in the neuregulin - 1
gene — a
single change
in one letter of the DNA code for the protein — has been found
in families with schizophrenia and linked to late - onset Alzheimer's disease with psychosis.
The study used whole - exome sequencing to characterize genetic
alterations that occur at the
single nucleotide level for all
genes in 25 cell lines commonly used as models of bladder cancer.
They also identified SNPs (
single nucleotide polymorphisms, or
alterations to the genetic code created by the addition or deletion of a
single nucleotide
in a
gene's long chain).
Sequencing accelerates the analysis of cancer associated
alterations in genome sequence such as insertions and deletions, CNVs, inversions, duplications, translocations and
gene fusions, as well as
single nucleotide variants.
Several common
single -
gene alterations have been observed
in glioblastoma.
Forms of variation include
single DNA base pair
alterations, duplications or deletions of
genes or sets of
genes, and translocations, a chromosomal rearrangement
in which a segment of genetic material from one chromosome becomes heritably linked to another chromosome.
A
single disabling change — an
alteration of one nucleotide — was found
in the TRAPPC9
gene in all three girls.
This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies
in any species; (b) Validation studies of candidate
genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and
gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to
alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other
single nucleotide polymorphisms and their relevance to physiology or pharmacology
in humans or model organisms,
in vitro or
in vivo; and (f) Theoretical approaches to analysis of sequence variation.