X chromosome News and Research

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Shugoshin protein maintains proper gene expression in subtelomeres

A research group discovered a new function of the chromosomal terminus, which may lead to the clarification of the mechanism for developing abnormal telomere structure such as multiple malformation and mental retardation.

29 Mar 2016

UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern Medical Center researchers have discovered a mutation that causes a rare systemic disorder known as X-linked reticulate pigmentary disorder (XLPDR) and, significantly, the unexpected cellular mechanism by which the mutation causes the disease.

29 Mar 2016

SLU scientist describes several tactics that can help cells overcome lesions

In a recent review paper published in Nature Structural & Molecular Biology, SLU scientist Alessandro Vindigni, Ph.D., describes the strategies cells use when their DNA faces replication stress, challenges that may derail a cell's ability to reproduce.

29 Mar 2016

Genetic syndrome may underlie some Parkinson's cases

Rare deletions at chromosome 22q11.2 are present at an increased rate in patients with Parkinson's disease, researchers report in The Lancet Neurology.

25 Mar 2016

Study uncovers role of small RNAs in fine-tuning egg development

All multicellular organisms that reproduce sexually rely on eggs to support early life. Researchers at University of California, San Diego School of Medicine and Ludwig Cancer Research used the tiny roundworm C. elegans as a model to better understand how eggs enable embryonic development, using only the materials already present in them.

25 Mar 2016

Scientists identify gene associated with cleft lip and palate

Leading scientists have identified an important gene that is associated with cleft lip and palate.Experts say the discovery is a step closer to understanding how this birth defect arises, and will help in the development of medical approaches to prevent the disfiguring condition.

25 Mar 2016

Virus-generated DNA lurking between human genes, show research

Think your DNA is all human? Think again. And a new discovery suggests it's even less human than scientists previously thought.

24 Mar 2016

Researchers elucidate how cells are blind to chromosome cohesion defects

Research led by Raquel Oliveira, group leader at Instituto Gulbenkian de Ciência, has elucidated how cells are almost blind to chromosome cohesion defects.

24 Mar 2016

Research: X and Y DNA swapping may occur more often than previously thought

It turns out that the rigid "line in the sand" over which the human sex chromosomes---the Y and X--- go to avoid crossing over is a bit blurrier than previously thought. Contrary to the current scientific consensus, Arizona State University assistant professor Melissa Wilson Sayres has led a research team that has shown that X and Y DNA swapping may occur much more often.

24 Mar 2016

PERK inhibition can be a promising therapeutic strategy for neurodegenerative diseases

A major challenge in the field of neurodegeneration is the unclear understanding of neuronal dysfunction. Elucidation of these patho-mechanisms could result in the identification of novel therapeutic targets. In this article, Bell et al. present an exhaustive literature review highlighting the endoplasmic reticulum (ER) kinase PERK as a crucial contributor to systemic and neurodegenerative disorders.

20 Mar 2016

Anti-anxiety drug reduces autistic features in Jacobsen syndrome mice

About half of children born with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of California, San Diego School of Medicine and collaborators developed a mouse model of the disease that also exhibits autism-like social behaviors and used it to unravel the molecular mechanism that connects the genetic defects inherited in Jacobsen syndrome to effects on brain function.

16 Mar 2016

Researchers identify new mutation responsible for spinocerebellar ataxia

Using the genetic information of two different families with three generations of disease, researchers have identified a new mutation responsible for a degenerative and ultimately fatal movement disorder. Through induced pluripotent stem cell techniques, researchers also grew neurons from one patient in the laboratory to be used in future experiments.

15 Mar 2016

Researchers develop new technique to create naïve pluripotent stem cells

Scientists at the University of Cambridge have for the first time shown that it is possible to derive from a human embryo so-called 'naïve' pluripotent stem cells - one of the most flexible types of stem cell, which can develop into all human tissue other than the placenta.

7 Mar 2016

Discovery could lead to better therapies for people with obsessive compulsive disorder

Research led by investigators in veterinary and human medicine has identified genetic pathways that exacerbate severity of canine compulsive disorder in Doberman pinschers, a discovery that could lead to better therapies for obsessive compulsive disorder in people.

27 Feb 2016

Clinical validation study on MaterniT GENOME test published in American Journal of Obstetrics and Gynecology

Sequenom, Inc., a life sciences company committed to enabling healthier lives through the development of innovative products and services, today announced the publication of a clinical validation study on the MaterniT GENOME laboratory-developed test in the American Journal of Obstetrics and Gynecology.

26 Feb 2016

Researchers analyze how Topo II enzyme may affect stability of genomes

While researchers are now familiar with how cancer begins—cells mutate and then multiply wildly out of control—it is still uncertain exactly how that mutation starts in the molecules of the cells.

22 Feb 2016

African Americans with common genetic variants at increased risk for blood clots

New research published online today in Blood, the Journal of the American Society of Hematology (ASH), identifies common genetic variants predominantly found in African Americans that double their risk for blood clots.

18 Feb 2016

Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL

A research team led by St. Jude Children's Research Hospital scientists has discovered details of how the abnormal breakage and rearrangement of chromosomes in white blood cells triggers a particularly aggressive form of acute lymphoblastic leukemia (ALL). Such leukemias are cancers of white blood cells, in which genetic mutations trigger overproduction of immature cells, called lymphoblasts.

9 Feb 2016

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

The London-based LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

8 Feb 2016

Researchers identify new targets that may help prevent and cure colon cancer

When the audio on your television set or smart phone is too loud, you simply turn down the volume. What if we could do the same for the signaling in our bodies that essentially causes normal cells to turn cancerous? New discoveries by researchers at the Stephenson Cancer Center at the University of Oklahoma may point to new ways to do just that.

3 Feb 2016