CLL was an appealing model for this study because
its high mutation rate in the short stretch of DNA that encodes the IG heavy chain (IGH).
Not exact matches
@ED The only thing that is assumed to be at least more or less constant
in evolutionary theory is the
mutation rate of individual genes, and even that, since
mutations are known, eg, to increase under
higher radiation, is only true «on average, over the long run».
«The type of inflammation seen
in psoriasis is known to promote insulin resistance, and psoriasis and diabetes share similar genetic
mutations suggesting a biological basis for the connection between the two conditions we found
in our study,» said the study's senior author Joel M. Gelfand, MD MSCE, a professor of Dermatology and Epidemiology at Penn. «We know psoriasis is linked to
higher rates of diabetes, but this is the first study to specifically examine how the severity of the disease affects a patient's risk.»
«Short generation times and
high mutation rates associated with short lifespan and fast growth enable new species to appear at a faster
rate in the tropics,» he says.
ETH researchers have now shown that the
high estimated
mutation rates at the start of the epidemic were due to the limited number of virus samples at the time
in combination with the computer models used, which calculate the estimates using genetic data from virus samples and from underlying assumptions.
To find BRCA
mutations — which are very rare — most studies have examined families with very
high rates of breast and other cancer
in young family members.
The study, which compared each model's success
in Caucasian women with those of Asian descent (Chinese, Japanese, Filipino, Korean and Vietnamese), also raised important questions about the effect of race on cancer development: When Caucasian and Asian patients with similar family histories of breast and ovarian cancer were compared, the Asian women had
higher rates of genetic
mutation, although the
rates of these cancers for Asians have traditionally been lower.
Moreover,
higher filaggrin
mutation rates, which result
in a loss of urocanic acid, correlated with
higher vitamin D levels
in the blood.
Now scientists have uncovered what may be a secret of that versatility, at least for certain microbes: individuals with a
high rate of genetic
mutation, says a Report
in today's issue of Science.
Melott said the uptick
in radiation from muons would have been
high enough to boost the
mutation rate and frequency of cancer, «but not enormously.
Because older sperm tend to have more chromosomal
mutations — ranging
in seriousness from harmless to lethal — there is among older fathers a
higher rate of kids born with certain rare tumors, neural - tube defects, congenital cataracts, and upper limb defects.
Sebat and colleagues discovered that spontaneous structural
mutations occurred at a surprisingly
high rate in individuals — 20 percent — and
mutations in autism tended to disrupt genes.
In newborns exposed to secondhand smoke, mutations in an important gene occur at a high rate, according to a pilot study in next month's Nature Medicin
In newborns exposed to secondhand smoke,
mutations in an important gene occur at a high rate, according to a pilot study in next month's Nature Medicin
in an important gene occur at a
high rate, according to a pilot study
in next month's Nature Medicin
in next month's Nature Medicine.
The response
rate was much
higher in patients whose tumours carried
mutations to genes involved
in repairing DNA.
A region inside the csd gene
in particular represents a hot - spot with a
high evolutionary
rate that, together with certain amino acid
mutations, decisively contributes to the formation of new csd alleles
in the flanking regions.
More importantly, the plants passed this elevated
mutation rate onto their offspringat a
rate two to four times
higher than
in the progeny of unstressed parents — even when these offspring were not challenged with UV or pathogens.
«Rats have a
higher mutation rate [than humans], so you get these different [families] developing
in Polynesia,» he says.
Researchers found that tumors carrying
mutations in the AR and FOXA1 pathways had a significantly
higher response
rate, 94.1 % compared to 16.6 %
in tumors without the
mutations.
Notably, the de novo
mutation rates in this study were
higher in exonic regions regardless of the paternal age.
The observed
mutation rate in coding regions seems to reflect the aggressiveness of breast cancer subtypes: lower
in luminal A (0.84
mutations / Mbp) than luminal B (1.36
mutations / Mbp),
higher in Her2 - enriched (2.05
mutations / Mbp) and Basal - like (1.68).
FLT3
mutations are more common
in patients with normal karyotype and appear to be associated with a
higher rate of relapse after conventional chemotherapy.
Mutation rates ten-fold
higher than typical lung cancers
in humans, though within three-fold of «hypermutator» tumors with
mutations in DNA repair genes.
Recent studies, however, have suggested that allelic recombination influences the underlying
mutation rate, as
high mutation rates are inferred
in regions of
high recombination.
That's why it's possible to have a very
high validation
rate (> 90 %) for somatic
mutations in solid tumors like lung cancer.
Although clinical trials have collectively shown a disease control
rate of approximately 45 percent using this approach
in ovarian cancer, they have yet to establish selective benefit
in BRCA1 / 2 - deficient cancers, which should generate stronger anti-tumor immune responses given their
higher mutation rate.
Using exome sequences from 3222 British - Pakistani individuals with
high parental relatedness, we estimate a
mutation rate of 1.45 ± 0.05 × 10 -LRB--8) per base pair per generation
in autosomal coding sequence, with a corresponding non-crossover gene conversion
rate of 8.75 ± 0.05 × 10 -LRB--6) per base pair per generation.
Given that most amino acid changes are slightly deleterious [12] and assuming that most genes
in the genome are relatively conserved, one would expect that regions of the genome with a low recombination
rate, when compared to those with a
high rate, would show i) a
higher ratio of non-synonymous (amino acid replacing) to synonymous (silent) substitutions (ω) and ii) a
higher degree of protein divergence (dA) due,
in both cases, to the reduced effectiveness of selection against slightly deleterious
mutations.
Functional genomic elements, for example, are expected to be found at
higher density
in genome regions with a
high recombination
rate where fewer slightly deleterious
mutations accumulate than
in areas of low recombination [13].
So the 26 % carrier
rate does not reflect the chance of any golden retriever carrying the
mutation and the 1 % Affected
rate we've observed is very likely
higher than what would be expected
in the general population of Goldens.
A KCNQ1 V205M missense
mutation causes a
high rate of long QT syndrome
in a First Nations community of northern British Columbia: A community - based approach to understanding the impact.