Roughly 75 % of disease -
causing genes in humans are also found in the fruit fly, and most of the components found in human heart cells are also found in the fly heart, thus providing a model for studying cardiovascular changes.
In April 2015, researchers in China reported that they had used CRISPR, with limited success, to repair a disease -
causing gene in human embryos.
Not exact matches
In April, Chinese researchers working with non-viable
human embryos (those that would never end up turning into people) used it to try to tweak a
gene that would normally have
caused a rare blood disorder.
This team also discovered 3,200
genes that had fewer loss - of - function or missense mutations than would be expected suggesting that these are likely disease -
causing variants that are rare or absent
in the population because of their detrimental effect on
human health.
Now we know that it is the DNA and
genes and chromosomal segregation and linking that
causes selective inheritance of various traits
in humans.
Until recently, half of the
human race died from infectious
causes before adulthood, providing strong selective pressure for genetic alleles that enhance host defence but why are the genetic alleles that are most frequently associated with depression so common
in the modern
gene pool?
The less adept mice, Rubin's team found, carry extra copies of a previously known
human gene called DYRK; a mutated version of an almost identical
gene in fruit flies, called minibrain,
causes neurological defects.
A team of researchers at the Stanford University School of Medicine has used a
gene - editing tool known as CRISPR to repair the
gene that
causes sickle cell disease
in human stem cells, which they say is a key step toward developing a
gene therapy for the disorder.
In humans, Huntington's is an inherited disease
caused by a
gene encoding a toxic protein, called mutant huntingtin, which
causes brain cells to die.
Kawaoka modified the H1N1 flu virus with a
gene from the H5N1 bird flu virus, which
caused a major
human outbreak
in 2009.
The newly identified
gene affects accumulation of amyloid - beta, a protein believed to be one of the main
causes of the damage that underpins this brain disease
in humans.
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 gen
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 gen
in human biology are not
caused by any single
gene.
Ironically, because of its pivotal role
in coordinating a range of cancer - fighting mechanisms
in the
human body, it is also one of the most important cancer -
causing genes when mutated.
«With more than 100
genes already known to
cause deafness
in humans, there are many patients who may eventually benefit from this technology.»
HD is
caused by a mutation
in the
human HTT
gene that results
in an abnormal expansion and misfolding of the corresponding huntingtin protein.
Before moving on to
human trials, they will need to study all instances of «off - target» effects: Years before Crispr, the viruses employed to deliver DNA
in gene therapy trials occasionally damaged the whole system,
causing cancer.
«Our work helps us to understand what
causes human diversity
in appearance by showing how
genes involved
in pigmentation subtly adapted to external environments and even social interactions during our evolution.
The current JBMR study extended that research by using palovarotene
in a mouse model carrying the same
human gene mutation that
causes FOP.
Mutations that inactivate this
gene cause severe birth defects
in humans.
In a report that appears in PLOS BIOLOGY, Dr. Hugo Bellen and his colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and BCM, and Dr. Chao Tong, at the Life Sciences Institute and Innovation Center for Cell Biology, Zhejiang University in Hangzhou, China, find that mutations of human homologs (genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects in autophagy in neuron
In a report that appears
in PLOS BIOLOGY, Dr. Hugo Bellen and his colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and BCM, and Dr. Chao Tong, at the Life Sciences Institute and Innovation Center for Cell Biology, Zhejiang University in Hangzhou, China, find that mutations of human homologs (genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects in autophagy in neuron
in PLOS BIOLOGY, Dr. Hugo Bellen and his colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and BCM, and Dr. Chao Tong, at the Life Sciences Institute and Innovation Center for Cell Biology, Zhejiang University
in Hangzhou, China, find that mutations of human homologs (genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively) cause defects in autophagy in neuron
in Hangzhou, China, find that mutations of
human homologs (
genes that carry out similar functions) of cacophony and its partner straightjacket (Cacna1a and Cacna2d2 respectively)
cause defects
in autophagy in neuron
in autophagy
in neuron
in neurons.
Anderson and colleagues focused on the
gene UBE3A, multiple copies of which
causes a form of autism
in humans (called isodicentric chromosome 15q).
Although specific
gene mutations have been identified
in humans that can
cause CCMs to form, the size and number varies widely among patients with the same mutations.
«However, we were able to show for the first time that changes
in this
gene primarily
cause Dowling - Degos disease and around half of the mutation carriers develop acne inversa,» emphasizes Damian Ralser, who is currently working on his doctorate at the Institute of
Human Genetics.
A virus that has shown promise as a vector for
human gene therapy
causes liver tumors
in neonatal mice.
By studying how these
genes cause defects
in fly and mouse models, we can improve our insights into the mechanisms related to
human disease,» said corresponding author and Dr. Hugo J. Bellen, professor of neuroscience and molecular and
human genetics at Baylor College of Medicine and an investigator at the Howard Hughes Medical Institute.
Variants
in the IQCB1
gene are known to
cause retinal degeneration
in humans.
A Johns Hopkins University team this week reported inserting a disrupted
human gene, the schizophrenia risk factor DISC1, into lab mice,
causing them to exhibit the brain asymmetry characteristic of schizophrenia as well as agitation
in open spaces and trouble finding hidden food — traits reminiscent of the restlessness, impaired sense of smell and depressionlike symptoms schizophrenics suffer, Reuters reports.
The drunkenness
gene, present
in many living things, including
humans, regulates a molecular switch that
causes neurons to drop into a less active state when triggered.
Eventually I went to the University of Michigan and set up a lab which was involved
in trying to find
genes that were the
cause of various frustrating
human diseases.
They may have lacked a
gene mutation that modern
humans carry that offers some protection against cancer -
causing chemicals found
in wood smoke.
The Ras
gene, which codes for the Ras proteins, was discovered
in the 1960s, and represents the first
gene identified with the potential to
cause cancer
in humans.
By activating the Ret receptor, the scientists were able to prevent
in flies and
human cell cultures the degeneration of mitochondria, which is
caused by a
gene defect related to Parkinson's disease.
Cornish's team took a mating receptor
gene from Candida albicans, a common
cause of yeast infections
in humans, and stuck it
in the baker's yeast.
Field reports suggest that not all K13 mutations are capable of
causing resistance, and the genetic system developed by Dr. Fidock to study K13, based on DNA repair approaches that are being used
in human gene therapy studies, will be critical
in identifying real hot spots of resistance.
In humans, a similar protein complex called CSN and its subunit CSN6 is now believed to be a cancer -
causing gene that impacts activity of another
gene (Myc) tied to tumor growth.
Kawaoka,
in contrast, stitched the hemagglutinin
gene from the avian virus — the H5 — into a H1N1 virus that easily spreads between
humans and
caused the relatively mild 2009 pandemic.
«Cardiovascular disease presents such a huge impact on people's lives that we should leave no stone unturned
in the search for the
genes that
cause heart attack,» says Cristen Willer, Ph.D., the senior author of the paper and an assistant professor of Internal Medicine,
Human Genetics and Computational Medicine & Bioinformatics at the U-M Medical School.
Now that they have a FAN1 knockout mouse
in hand, and they have confirmed that it mimics many aspects of karyomegalic interstitial nephritis
in humans, Smogorzewska's lab can start to delve into how the loss of the
gene causes kidney degeneration.
«We studied a zebrafish
gene that is analogous to a
human gene that
causes deafness, and here we show the defect is
in the process of mechanotransduction.»
Scientists say the new strategy enhances the accuracy for surgical - like editing of the
human genome, correcting mistakes
in the DNA sequence that
cause devastating diseases like DMD, a deadly condition
caused by defects
in the dystrophin
gene.
Interestingly, when these same
genes go awry
in humans, they
cause bone - development disorders called skeletal ciliopathies.
Earlier versions of these «base editors,» which target typos related to the other half of disease -
causing genetic spelling errors, have already been used to alter
genes in plants, fish, mice and even
human embryos.
Then for HARE5, the most active enhancer
in an area of the brain called the cortex, they made minigenes containing either the chimp or
human version of the enhancer linked to a «reporter»
gene that
caused the developing mouse embryo to turn blue wherever the enhancer turned the
gene on.
The
human version of the FOXP2 (short for fork - head box P2) differs from that of the chimp (the closest living relative of
humans)
in two places along the genetic code,
causing differences
in two amino acids
in the protein coded by the
gene.
It also contains some of the most variable
human genes: hundreds of versions — or alleles — exist of each
gene in the population, allowing our bodies to react to a huge number of disease -
causing agents and adapt to new ones.
Soon after scientists
in the
Human Genome Project finished describing chromosome 21
in 2000, they confirmed that within this chromosome are the
genes that
cause both Down syndrome and Alzheimers disease.
Mutations
in these
genes are known to
cause the hypersociability associated with Williams syndrome
in humans.
So far, scientists have found that different populations of living
humans have inherited the Neandertal version of
genes that
cause diabetes, lupus, and Crohn's disease; alter immune function; and affect the function of the protein keratin
in skin, nails, and hair.
In a separate paper, virologist Mark Gibbs and his colleagues at Australian National University in Canberra report that a key gene in the virus that caused the 1918 pandemic is part pig, part huma
In a separate paper, virologist Mark Gibbs and his colleagues at Australian National University
in Canberra report that a key gene in the virus that caused the 1918 pandemic is part pig, part huma
in Canberra report that a key
gene in the virus that caused the 1918 pandemic is part pig, part huma
in the virus that
caused the 1918 pandemic is part pig, part
human.
The
human influenza virus H1N1 that
caused the 2009 flu pandemic, and H9N2, an avian influenza virus that is endemic
in bird populations
in Asia, are close cousins — close enough that they can swap
genes if they find themselves
in the same cell, resulting
in new viruses that are a patchwork of the parent strains.