X chromosome News and Research

RSS

New gene cut-and-paste methods help correct disease-causing mutation in animal model

For the first time, researchers have treated an animal model of a genetic disorder using a viral vector to deliver genome-editing components in which the disease- causing mutation has been corrected.

3 Feb 2016

Two studies shed new light on nature of tandem DNA repeat arrays

A pair of studies by a team of scientists has shed new light on the nature of a particular type of DNA sequences—tandem DNA repeat arrays—that play important roles in transcription control, genome organization, and development.

29 Jan 2016

Scientists find how APOBEC protein becomes dangerous when DNA replication process goes wrong

Cancer is caused by the growth of an abnormal cell which harbours DNA mutations, "copy errors" occurring during the DNA replication process. If these errors do take place quite regularly without having any damaging effect on the organism, some of them affect a specific part of the genome and cause the proliferation of the mutant cell, which then invades the organism.

25 Jan 2016

Study provides evidence for use of inherited genetic markers to improve melanoma prognostication

Melanoma is the most dangerous and lethal form of skin cancer. But just how long will a patient survive following the removal of a melanoma tumor? A more definitive answer to that question could come from new studies at NYU Langone Medical Center and its Laura and Isaac Perlmutter Cancer Center. Researchers there have discovered an inherited genetic marker that might provide clinicians with a personalized tool to gauge an individual's survival and determine which patients require closer monitoring in the years following surgery.

21 Jan 2016

UC Berkeley researchers make major improvement in CRISPR-Cas9 gene editing technology

University of California, Berkeley, researchers have made a major improvement in CRISPR-Cas9 technology that achieves an unprecedented success rate of 60 percent when replacing a short stretch of DNA with another.

21 Jan 2016

Variations in RANBP1 gene may disrupt brain signaling in neuropsychiatric conditions

Scientists have identified a gene that appears to play a significant role in raising a person's risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 deletion syndrome.

20 Jan 2016

Researchers reveal totally new biological mechanism that underlies cancer

In a landmark study, researchers from the Broad Institute and Massachusetts General Hospital reveal a completely new biological mechanism that underlies cancer. By studying brain tumors that carry mutations in the isocitrate dehydrogenase (IDH) genes, the team uncovered some unusual changes in the instructions for how the genome folds up on itself.

13 Jan 2016

Researchers discover molecular target for DNA repair defects behind Fanconi anemia

Researchers have identified a molecular target and experimental treatment strategy for DNA repair defects behind Fanconi anemia – a complex genetic disorder responsible for birth anomalies, organ damage, anemia and cancer.

12 Jan 2016

U-M research could lead to new ways of fighting X-linked diseases in girls and women

Nearly every girl and woman on Earth carries two X chromosomes in nearly every one of her cells -- but one of them does (mostly) nothing. That's because it's been silenced, keeping most of its DNA locked up and unread like a book in a cage.

11 Jan 2016

DNA damage may lead to mutation and changes in cell

A team of researchers from Colorado State University has been studying DNA damage in living cells to learn more about how genetic abnormalities arise. It has long been known that DNA molecules in every cell get constantly damaged by things from the outside environment, like sunlight, cigarette smoke and radiation. However, more recently researchers have discovered that sources from within the cell itself can sometimes be even more damaging.

7 Jan 2016

Researchers link idiopathic congenital nystagmus to a defect in neurocomputation

Botond Roska and his group at the Friedrich Miescher Institute for Biomedical Research implicate a clearly defined neuron type and its circuit in the retina in the pathophysiology of idiopathic congenital nystagmus.

6 Jan 2016

Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

Researchers have used CRISPR to treat an adult mouse model of Duchenne muscular dystrophy. This marks the first time that CRISPR has successfully treated a genetic disease inside a fully developed living mammal with a strategy that has the potential to be translated to human therapy.

4 Jan 2016

Researchers identify inherited traits related to sleep, wake and activity cycles

In the first study of its kind, a team of international scientists led by UT Southwestern Medical Center and UCLA researchers have identified a dozen inherited traits related to sleep, wake, and activity cycles that are associated with severe bipolar disorder.

29 Dec 2015

Researchers identify new gene that helps maintain chromosome number in cells

Molecular biologists at UT Southwestern Medical Center have identified a gene called NORAD that helps maintain the proper number of chromosomes in cells, and that when inactivated, causes the number of chromosomes in a cell to become unstable, a key feature of cancer cells.

26 Dec 2015

3D maps of spatial organization may help find genes involved in hereditary diseases

It has now been 15 years since scientists celebrated the completion of the human genome. At that point, scientists had determined the entire sequence of the genetic letters making up our DNA.

26 Dec 2015

Researchers identify cause of rare syndrome consistent with Fanconi Anemia

An international team of researchers has established the cause of rare syndrome consistent with Fanconi Anemia: a de novo mutation in a so called RAD51 gene, which is responsible for repairing damages in the DNA.

23 Dec 2015

Mitochondrial variation and viable pregnancy: an interview with Dr Elpida Fragouli

Embryos require adequate amounts of energy so that they can successfully progress through each of their cell divisions.

16 Dec 2015

Report uncovers how Down syndrome hampers nervous system that plays key role in health, longevity

While most Down syndrome research has focused on the brain, a new report by Johns Hopkins University biologists uncovers how the disorder hampers a separate part of the nervous system that plays a key role in health and longevity.

14 Dec 2015

Whitehead researchers create 3D map to predict how genes are regulated in normal cells

Whitehead Institute researchers have created a map of the DNA loops that comprise the three dimensional (3D) structure of the human genome and regulate gene expression in human embryonic stem (ES) cells and adult cells. The location of genes and regulatory elements within this chromosomal framework could help scientists better navigate their genomic research, establishing relationships between mutations and disease development.

13 Dec 2015

TBK1 protein plays vital role in the process of cell division

Moffitt Cancer Center researchers have found that a protein called TBK1 plays an important role in the process of cell division, especially at a stage called mitosis.

11 Dec 2015