However, since most of the disease variants fall outside
the gene coding sequences, thereby implicating gene expression regulation as the causal mechanism, the functional interpretation of the exact role of the associated variants remains to be determined.
Not exact matches
That's not to say
gene editing is new (it isn't), but Crispr simplifies the process by using molecular scissors that can be precisely targeted to snip out aberrant regions of genetic
code, which can then be replaced with the correct
sequences.
The researches found that the transgene was inserted into an active region of the genome, thereby disrupting the
coding sequence and ultimately the function of the plants own OsAux1
gene.
Gene discovery was greatly facilitated by a new exome
sequencing technology, which analyzes all protein -
coding regions of the genome at once.
These are
sequences made in the lab from RNA — the template used to produce the proteins that
genes code for.
To derive an evolutionary tree of the TRIM5
gene, they analyzed and compared its complete protein -
coding DNA
sequences from 22 African primate species.
The team
sequenced the
gene that
codes for the NaV1.7 channel in mole rats, and compared it with SCN9A — a key
gene in the human version of the channel.
Sequencing the genome of one such organism, King and her colleagues found
genes that
code for pieces of the same proteins used for the binding of cells and communication between cells in animals — functions that would be unexpected in such an organism.
They
sequenced the
gene coding for the receptor in patients with either severe skin allergies or hyper - IgE syndrome, a rare condition in which the body produces too much IgE.
So Axel Visel of the Lawrence Berkeley National Laboratory in California focused on «enhancers»: short
sequences of DNA — which are still sometimes called «junk» — that do not
code for
genes but can influence their activity.
With such long stretches of DNA, Hung and his team could assess the extent to which the
sequences of DNA
code in the
genes in the three specimens varied from bird to bird.
By comparing proteomic and RNA -
sequencing data from people on different exercise programs, the researchers found evidence that exercise encourages the cell to make more RNA copies of
genes coding for mitochondrial proteins and proteins responsible for muscle growth.
By deleting some of these «ultraconserved elements», researchers have found that these
sequences guide brain development by fine - tuning the expression of protein -
coding genes.
The team integrated three, complementary
gene sequencing approaches to look for mutations in tumor cells from SS patients: whole - genome
sequencing in six subjects,
sequencing of all protein -
coding regions (exomes) in 66 subjects, and comparing variation in the number of copies of all
genes across the genome in 80 subjects.
«The fact that the genetic
code can simultaneously write two kinds of information means that many DNA changes that appear to alter protein
sequences may actually cause disease by disrupting
gene control programs or even both mechanisms simultaneously,» said Stamatoyannopoulos.
For this reason, their finding — that nearly half of the unmapped
sequences contained in available genomic reference libraries, including many protein -
coding genes, were located in the centromeres — was unexpected.
Using next - generation
sequencing to identify the underlying mutations causing these effects, the groups found that the only common suspect was again the ap2 - g
gene — the
gene that
codes for producing the AP2 - G protein.
All the plant groups the researchers examined, except liverworts, contained at least one of three distinct introns — useless chunks of DNA located inside the
coding sequence of a
gene — in two different
genes.
The researchers used the power of
gene sequencing and clever computational methods to uncover the «source
code» for human endothelial cells and learn how that
code is disturbed in human disease.
«
Genes code for the sequence of amino acids in proteins, and some are involved in the regulation of the expression of other genes,» he
Genes code for the
sequence of amino acids in proteins, and some are involved in the regulation of the expression of other
genes,» he
genes,» he says.
Both Antarctic and Arctic fish carry antifreeze proteins in their blood, but the
genes that
code for them not only differ in
sequence but arose at different times, since the North Atlantic froze only 2.5 million years ago and the Southern Ocean 10 to 14 million years ago.
«By
sequencing all of the DNA that
codes for mRNA and ultimately, proteins, Dr. Amin and colleagues found a single
gene that may account for as much as 4 % of the heritable risk for depression,» said Doctor John Krystal, Editor of Biological Psychiatry.
The
gene that
codes for this clotting protein has a very similar
sequence across many plant species, and the researchers showed that the microRNA from dodder targets regions of the
gene sequence that are the most highly conserved across plants.
To identify genetic changes likely to be responsible for the giraffe's unique characteristics, including sprints that can reach 37 miles per hour (60 km / h), Cavener and Agaba compared the
gene -
coding sequences of the giraffe and the okapi to more than forty other mammals including the cow, sheep, goat, camel, and human.
To narrow down the suspects in the US Airways crash, the Smithsonian lab's Carla Dove isolated and
sequenced a small piece of a mitochondrial
gene — known in the field as a DNA bar
code.
They
sequenced the entire nuclear genome of this species, and identified all of the
genes within that genome that
code for biological functions.
Pugh and Venters further validated their surprising findings by determining that these non-
coding initiation machines recognized the same DNA
sequences as the ones at
coding genes, indicating that they have a specific origin and that their production is regulated, just like it is at
coding genes.
According to Richard Durbin, who leads the project's informatics team, computer techniques seem to find most of the
genes sequenced so far but frequently missed some pieces of them, particularly the short
coding regions that occur at the beginning of many nematode
genes.
Extensive research has already examined the function of microRNAs, a category of small evolutionarily conserved noncoding RNAs about 22 to 24 nucleotides in length that target protein -
coding genes in a
sequence - specific manner.
From these efforts, we identified a high - quality orthologous
gene set across avian species, consisting of exons from 8251 syntenic protein -
coding genes (~ 40 % of the proteome), introns from 2516 of these
genes, and a nonoverlapping set of 3769 ultraconserved elements (UCEs) with ~ 1000 bp of flanking
sequences.
Merely finding
genes, which make up only two per cent of the genome, amid the reams of DNA
code produced by
sequencing will be hard enough.
These are
sequences produced in the lab from the RNA that is the intermediate step between
gene and the protein it
codes for.
First the two researchers narrowed the possible location of the lin - 4
gene to a
sequence of DNA 700 nucleotides long, about one - third the size of a typical protein -
coding gene.
In brown bears, the
sequence of this
gene varies from one bear to another, but all the polar bears surveyed have an identical version, with the exact same genetic
code at nine variable spots in the
gene, about half of which should change the function of the APOB protein.
Her team analysed the DNA
sequence of the
gene TAS1R3, which
codes for a sweet taste receptor, in 51 primate species, including humans.
The tomato (left) shares all but 8 % of its more than 34,000 protein -
coding genes with its close relative, the recently
sequenced potato.
DNA
sequencing of the ladybird's protein -
coding genes revealed roughly 50 that help manufacture antimicrobial peptides, compared with 16 such
genes identified in the red flour beetle, which the researchers examined for comparison.
DNA methylation and other epigenetic alterations — chemical changes to DNA that can alter a
gene's expression without affecting its protein -
coding sequence — may underlie some of the lasting biochemical havoc, Ghanei says.
Mice and humans share approximately 70 percent of the same protein -
coding gene sequences, which is just 1.5 percent of these genomes.
The human genome contains about 3 billion base pairs, but only about 2 percent of these base pairs represent protein -
coding genes, meaning that whole - exome
sequencing measures the genetic alterations focused on a small but very important fraction of the genome (as opposed to techniques of whole genome
sequencing, which measures every nucleotide across the entire genome, regardless of whether these
genes are expressed or silent).
Dan Graur of Tel Aviv University bases his surprising claim on a study of genetic mutations, which produce changes in the amino acid
sequence of the protein a
gene codes for, and which are assumed to accumulate at a fairly steady rate.
Sogin began collecting and sifting through marine organisms — algae, fungi, sponges, jellyfish, anemones, mollusks — cutting them up and extracting DNA, adding enzymes, concentrating the DNA and
sequencing the
genes, reducing them to strips of
code, comparing their ribosomal RNA, and applying algorithms to measure their relationship with one another and with insects, worms, fish, birds, and mammals.
Using whole exome
sequencing (a next generation test to analyze the exons or coding regions of thousands of genes simultaneously) conducted at the Baylor College of Medicine Human Genome Sequencing Center, the researchers identified CLP1 mutations in two unrelated families with the
sequencing (a next generation test to analyze the exons or
coding regions of thousands of
genes simultaneously) conducted at the Baylor College of Medicine Human Genome
Sequencing Center, the researchers identified CLP1 mutations in two unrelated families with the
Sequencing Center, the researchers identified CLP1 mutations in two unrelated families with the disorder.
He pulls up the
sequence of the CD32
gene, which has five distinct protein -
coding regions.
The team also carried out a so - called metagenomic analysis, in which the genomes from all organisms in a sample are
sequenced collectively; the great majority of
genes they found
coded for proteins never seen before.
Soon after researchers began to
sequence individual genomes 5 years ago, they realized that everyone's DNA seems to have major mutations that disable the protein for which the
gene codes.
Looking at a protein modification that normally only exists in β - actin, they found that the reason it was not also present on γ - actin was due to variations in the
coding sequence between the two actin
genes.
The most common genetic mutation in ALS and FTD is an abnormal repeated expansion of the
coding sequence within a
gene, C9ORF72, with unknown function.
The third project will fully
sequence the protein -
coding regions of 1000
genes (5 % of the total) in about 1000 genomes.
Silent mutations occur when the change of a single DNA nucleotide within a protein -
coding portion of a
gene does not affect the
sequence of amino acids that make up the
gene's protein.