Biologists and informatics experts are launching a quiet revolution aimed at building better genomes, one made possible by newer sequencing technologies, novel methods for locating
sequences on chromosomes, and improved software for piecing DNA together.
Lu's team will extract immune cells called T cells from the blood of the enrolled patients, and then use CRISPR — Cas9 technology — which pairs a molecular guide able to identify specific genetic
sequences on a chromosome with an enzyme that can snip the chromosome at that spot — to knock out a gene in the cells.
In March three separate teams announced that they had zeroed in on a DNA
sequence on chromosome 1 that carries the gene for complement factor H, a protein involved in regulating inflammation.
January 16, 2005 — In a paper published in the online edition of Nature Genetics, deCODE scientists describe the discovery of a large and ancient stretch of inverted
sequence on chromosome 17.
Not exact matches
When the researchers compared the mRNA to a library of DNA
sequences taken from the dendrites of neurons by James Eberwine of the University of Pennsylvania Medical Center, they found that it came from a single gene
on chromosome X — the human version of which, when mutated, leads to fragile - X syndrome.
They specifically studied the length of telomeres (repeated DNA
sequences)
on the ends of
chromosomes in leukocytes (white blood cells); the protective caps are believed to be markers of biological aging, because they shrink over time.
When they looked more closely, they found that a 1.5 - million - base - pair
sequence was duplicated
on one copy of
chromosome 17.
The new analysis, based
on data assembled primarily by graduate student Yan - Jie Feng at Sun Yat - Sen University in Guangzhou, China, focused
on the
sequences of 95 genes located
on chromosomes in the nucleus and how they changed over time.
These two individuals simply had the good fortune of successfully passing
on specific portions of their DNA, called the Y
chromosome and the mitochondrial genome, through the millennia to most of us, while the corresponding
sequences of others have largely died out due to natural selection or a random process called genetic drift.
Gene
sequencing revealed two regions associated with major depressive disorder
on one of the 23 pairs of
chromosomes.
Using a variety of
sequencing and bioinformatics tools, chromosomal imaging and PCR technology, for the first time, they have identified a large chromosomal swap involving two regions
on chromosomes 1 and 4, and showed that it prevents the proper reshuffling of its DNA in its progeny.
«In addition to funding rice
sequencing, the [Thai] government is about to launch an effort that will move
on to functional genomics,» says Apichart Vanavichit, a molecular biologist at Thailand's National Center for Genetic Engineering and Biotechnology in Nakorn Pathom, which is helping to
sequence chromosome 9.
Kidd notes that this initial paper
on Y
chromosome sequence diversity provides important first evidence that the male most recent common ancestor did not live more recently than the female most recent common ancestor.
Jeffrey Kidd, Ph.D., an Assistant Professor of Human Genetics and Computational Medicine & Bioinformatics who worked
on the new study, notes that only recently has it become possible to
sequence Y
chromosomes, because of technical limitations of previous approaches.
As when he worked
on the human genome, Venter is relying
on a radical technique called shotgun
sequencing: He chops up vast amounts of DNA into tiny pieces and then uses sophisticated computer analyzers to piece them back together into intelligible genes and
chromosomes.
Jim (
on the right), whose Y
chromosome was
sequenced, together with Dolly, his mother, and Binti, his sister.
The DNA analysis used in this study focused
on mitochondrial DNA, which is easier to recover from fossils than the DNA in
chromosomes, because each cell has thousands of copies of the relatively short mitochondrial DNA
sequence.
The researchers
sequenced the entire genome of C. amylolentus, mapping the location of all the genes as well as the centromeres
on each of the organism's 14
chromosomes.
During development,
chromosomes are subject to chemical changes that don't affect the nucleotide
sequence but can turn genes
on or off; the best known example is methylation, in which a methyl group is attached to specific DNA regions.
Because genes
on the Y
chromosome often vary slightly in
sequence — and even function — from the corresponding genes
on the X, males could have slightly different patterns of gene expression throughout the body compared with females, due to not only their hormone levels, but also their entire Y
chromosome.
Blasco is best known for her research
on the enzymes that maintain telomeres — repetitive DNA
sequences capping the
chromosomes — and their role in cancer and aging.
Scientists investigated the mutation that causes the Muffs and beard characteristic in certain chicken varieties by mapping the trait to the correct location
on the
chromosome and
sequencing that region from chickens with and without Muffs and beard.
Traditional genetic methods, such as looking at family trees and
sequencing individual genes, have linked defects in 80 genes
on the X
chromosome to XLMR, but the discovery rate has slowed, suggesting that those techniques have reached their limit.
In most cases, for a particular genetic
sequence on a specific
chromosome, the variants from each pair should be represented equally in the woman's blood.
Chronic myelogenous leukemia (CML) is a human disease associated with a consistent chromosomal translocation that results in
sequences from the c - abl locus
on chromosome 9 being fused to
sequences in a breakpoint cluster region (bcr)
on chromosome 22.
Other medical
sequencing projects will use DNA
sequencing to: discover new genes that are involved in common diseases; identify the genes responsible for dozens of relatively rare, single - gene (autosomal Mendelian) diseases;
sequence all of the genes
on the X
chromosome from affected individuals to identify those involved in sex - linked diseases; and survey the range of variants in genes known to contribute to certain common diseases.
A targeting vector was designed to insert an internal ribosome entry site (IRES), a Cre recombinase
sequence, a polyA
sequence, and an frt - flanked neo cassette into the 3» untranslated region (after the translational termination site) of the glutamic acid decarboxylase 2 locus (Gad2)
on chromosome 2.
However, we previously reported that the bioinformatics algorithm would incorrectly assign a small fraction of
sequenced DNA reads to
chromosome Y in pregnancies with female fetuses.24 The percentage
chromosome Y values of all studied pregnancies are shown in appendix 7
on bmj.com.
After looking at 9 million genetic variants in those who were asparagus anosmic, they linked this deficiency to 871 individual
sequence variations they discovered in
chromosome 1,
on genes associated with our sense of smell.
Discovered in 1938 by geneticist Hermann J. Müller, telomeres (Greek for «end part») are essentially protective caps composed of short DNA
sequences on the tips of
chromosomes.
The exome
sequences of 1,535 Kronos and 1,200 Cadenza mutants have been re-sequenced using Illumina next - generation
sequencing, the raw data aligned to the IWGSC Chinese Spring
chromosome arm survey
sequence, mutations identified, and their effects predicted based
on the protein annotation available at the Ensembl Plants archive site.
gene A hereditary unit consisting of a
sequence of DNA that occupies a specific location
on a
chromosome and determines a particular characteristic in an organism.
We have re-sequenced the exome of 1,535 Kronos and 1,200 Cadenza mutants using Illumina next - generation
sequencing, aligned this raw data to the IWGSC Chinese Spring
chromosome arm survey
sequence, identified mutations, and predicted their effects based
on the protein annotation available at Ensembl Plants.
The researchers
sequenced the genomes of Kenyan honeybees from mountain forests or lowland savannahs and uncovered that regions located
on chromosome 7 and 9 were consistently different between the two populations.
a gene or a DNA
sequence situated at a known position
on a
chromosome, which can be used to identify cells or individuals.
In many imprinted genes, regulatory
sequence elements have been identified that are methylated
on one of the parental
chromosomes only.
The detailed
sequences Page's team developed were necessary, however, to compare genes
on the Y
chromosome with those
on the X
chromosomes to find pairs of genes
on both.
The researchers observed a
sequence variant in a previously unidentified gout susceptibility gene located
on chromosome 19 that has a large effect
on serum uric acid levels and gout.
The researchers recently produced new, high - quality
sequences for some of these Y
chromosomes, but have been working
on many of them for more than a decade.
In the present study, we used a combination of BAC clone contig construction, polymorphism analysis of DNA from congenic strains, and
sequence mining of the human orthologous region to generate an integrated map of the Idd10 region
on mouse
chromosome 3.
When the researchers
sequenced the samples for genetic mutations and analyzed
chromosome structure, they could trace the tumors» evolutionary histories, much as evolutionary biologists trace the origins of organisms back to their common ancestors based
on fossils deposited in different geologic eras.
Using Telo - 5 technology developed from actual Nobel Prize - winning medical research
on telomeres — a genetic
sequence that protects
chromosomes from deterioration — this cream helps nix the appearance of wrinkles, improve skin firmness, and even out any discoloration for youthful looking skin.
Scientists working to sort out hundreds of thousands of genes found that some
sequences on canine
chromosomes are similar to some
sequences on human
chromosomes and can therefore lead to the discovery of markers for some diseases or abnormalities in both species.
The coding
sequences (Genbank Accession number HQ110882) of both of these are in 100 % agreement with the public domain assembled canine genome
on Chromosome 7: 22,632,147 — 22,638,970.
The study then examined the participants» DNA, specifically the length of their telomeres, which are — he explained — repetition
sequences of DNA at the end of
chromosomes that shorten as one gets older, «like the plastic tabs
on shoelaces that fray over time».
Adults who had been categorized as behaviorally inhibited at the age of 2 years exhibited a higher amygdala activation in response to unknown vs familiar faces16 compared with adults who were uninhibited as children, consistent with the notion that novel or ambiguous environmental stimuli of potential biological relevance activate the amygdala.17 Turning to genes that can influence the neurobiological bases of the processing of emotions, 2 common alleles, the short (S) and the long (L), in a variable repeat
sequence of the serotonin transporter (5 - HTT) promoter polymorphism (5 - HTTLPR)
on human
chromosome 17q11 have been differently associated with greater amygdala activity in response to angry or fearful faces18 in healthy adults.