Last autumn Jean Weissenbach and Marc Lathrop came up with a new type of genetic map which makes it possible to map
most single genes in «months instead of years», according to Nigel Spurr, a cancer researcher and gene mapper at the Imperial Cancer Research Fund.
Not exact matches
Alpha -1-antitrypsin deficiency (A1ATD) is the
most common genetic disease of the liver, and is caused by a
single nucleotide change in the
gene that codes for alpha -1-antitrypsin (A1AT), an enzyme inhibitor that normally protects bodily tissues.
«
Most PRAs, including the one in Phalenes and Papillons, are recessive and caused by
single gene defects and small sample numbers can lead to breakthroughs.
The hypocretin receptor 2
gene could be the
single most important
gene in human narcolepsy, says Michael Aldrich, a neurologist and director of the University of Michigan's Sleep Disorders Center.
In the intervening years, we have come to realize that many of the
most interesting and important phenomena in human biology are not caused by any
single gene.
«When
most people think about cancer genetics, they think about
single key mutations that foster tumor formation — very specific things like the BRCA
genes,» said Joe R. Delaney, PhD, a fellow in the Clinical Translation program at UC San Diego Moores Cancer Center and lead author of the paper published February 15 in Nature Communications.
A mutation in the LRRK2
gene is the
single most common inherited cause of Parkinson's disease.
The tool acts with surgical precision to replace only abundances that have
most likely dropped out and can be used in any type of
single - cell
gene - expression analysis.
That pattern of inheritance would suggest the strong effect of a
single gene mutation, and it would
most likely crop up in families that had a lot of shared
genes through the intermarriage of first cousins.
Sickle cell disease is the world's
most common serious condition due to a
single gene mutation.
Hereditary predisposition to cancer is sometimes due to a
single high - risk genetic change, like a mutation in the BRCA1 or BRCA2
genes for breast cancer, but
most of the time, the disease is the result of multiple
gene variants that add up, environmental risk factors, and a big element of chance.
That's unusual;
most microbial genomes consist of a
single chromosome, sometimes with some extra
genes carried on bits of extraneous DNA called plasmids.
It is particularly useful when clinicians want to identify an illness or
gene mutation involving a
single patient or the patient and two or three other family members, which is the
most common clinical situation for undiagnosed diseases.
«Mutations in Shell explain the
single most important economic trait of the oil palm: how the thickness of its shell correlates to fruit size and oil yield,» explains Dr. Rajinder Singh of the MPOB, first author of the Nature paper describing the Shell
gene.
As a result,
most possess only a
single disease - resistance
gene.
Most of the afflicted family members, but none of those who sleep normally, carry a
single base - pair mutation in a
gene called hPer2, the researchers report 12 January in a paper published online in Science.
Dr Ton added: «Plant immunity that is controlled by a
single resistance
gene, on which
most conventional breeding programs are based, is comparably easy to overcome by a pathogen.
Most importantly, by looking at a
single cell level, researchers were able to correlate the chromosomal make - up of an embryo to a subset of 12
genes that are activated prior to the first cell division.
This, in my opinion, is one of the
most compelling parts of this study: in vivo functional validation of a
single base change in a noncoding enhancer that's hundreds of thousands of bases away from the
gene it regulates.
Topics for the scientific sessions are:
Single cell genomics and
gene expression Genetic interactions RNAi and somatic cell genetics Protein - DNA interactions Cancer The meeting also highlights existing opportunities for academic and industrial researchers to access automated cell - based and biochemical technologies based at the Karolinska High Throughput Center; home to one of the
most sophisticated, state - of - the - art, ultra-high performance liquid handling and analysis platforms in Europe.
«It's probably the
single most common
gene fusion in human cancer,» said study co-leader Antonio Iavarone, MD, professor of neurology and of pathology and cell biology (in the Institute for Cancer Genetics) at CUMC.
The
most radical news at the conference was the first reported use of CRISPR / Cas9 to generate precise genome edits (changing only a
single base pair) in two
genes, not only in cell lines in vitro, but also in specific tissues of embryos in ovo.
A
single nucleotide polymorphism (SNP) in the ARID5B
gene has been identified as a risk factor in the
most common form of childhood leukaemia
Most biological experiments, however, still take a reductionist approach to this vast array of data: knocking out a
single gene and seeing what happens.
Fragile X is the
most common known
single -
gene cause of autism and the
most common inherited cause of intellectual disability.
The
most famous one is the
gene that causes sickle cell anemia: While two copies of that
gene cause a disease that's devastating in its own right, a
single copy creates a healthy child with strong malarial resistance.
With PrediXcan, validation studies only need to test a few thousand
genes at
most, instead of millions of potential
single mutations.
Our supermatrix expands upon these previous studies by bringing together sequences from a wide array of molecular studies, supplemented by new data for four
genes, to yield a
single primate phylogeny with strong support for the monophyly of
most primate genera, families, and higher - level taxa (Primates, Strepsirrhini, Lemuriformes, Lorisiformes, Haplorhini, Tarsiiformes, Simiiformes, Catarrhini, Platyrrhini).
«Unfortunately, the
gene - centric approach to cancer treatment which, for the
most part, has relied on using a
single drug to attack an individual mutation, has proved effective for only a relatively small percent of patients,» says Califano.
In humans, PKD is one of the
most common diseases caused by a mutation in a
single gene.
Some of the team's
most significant findings since 2009 were the identification of a
gene mutation associated with blood cancers and the discovery of chromosomal crisis where the genome can be shattered into hundreds of fragments in a
single cellular catastrophe.
The
most common genetic killer of infants, a disease known as spinal muscular atrophy, is caused by mutations in a
single gene.
In contrast to Mendelian disorders (e.g., Huntington's disease, sickle cell anemia) in which variation in a
single gene causes disease, common complex disorders, such as heart disease, diabetes, and
most cancers, develop as a result of both genetic and environmental factors.
Genetic Mistake Causes
Most Thyroid Cancer Kimmel Cancer Center researchers have found that a
single genetic mistake in the BRAF
gene causes about two - thirds of papillary thyroid cancers.
In
most cases the putative coding sequences of OR and V1R
genes span a
single exon and the additional exons contains only UTRs.
Amphimedon has
single copies of
most metazoan kinase classes, but has several expansions of over 50
genes per class.
However,
most differentiated regions contained very few annotated
genes: 59 segments (57.8 %) contained three or fewer
genes and 30 (29.4 %) localized to a
single gene.
The length of the loop is at least 8 nucleotides long; there is no apparent maximum in loop length, even in organisms possessing only a
single Dicer
gene, contra (6), even though
most taxa like vertebrates with
single Dicer
genes never show loop lengths greater than ~ 40 nucleotides.
The clearest finding from proteomics experiments is that
most human
genes have a
single main protein isoform, while those alternative isoforms that are identified tend to be the
most biologically plausible: those with the
most cross-species conservation and those that do not compromise functional domains.
The
single most highly represented family of dysregulated
genes was the key liver P450 cytochrome detox
gene which is needed in the first of three steps for detox (30
genes in total).
It seems
most molecular genetic approaches in relating heritability of personality characteristics such as criminality to a
single gene frequently suffer from failures in replication.