Chromosome News and Research

Latest Chromosome News and Research

Researchers determine mutations in RERE gene can cause many features linked with 1p36 deletions

One in 5,000 babies is born missing a small amount of genetic material from the tip of chromosome 1, a region called 1p36. Missing genes in the 1p36 region is a relatively common cause of intellectual disability.

18 Apr 2016

Person's age, mobility could be powerful predictors of survival than certain biomarkers

Advances in technology allow scientists to measure intricate details about the human body that greatly enhance understanding of health, disease and aging.

7 Apr 2016

Scientists identify RingoA protein as key regulator of meiosis

Published today in Nature Communications, a study by scientists at the Institute for Research in Biomedicine headed by ICREA researcher Angel R. Nebreda has reported that the protein RingoA is a key regulator of meiosis--the cell division process that gives rise to ovules and sperm for sexual reproduction in mammals.

31 Mar 2016

Putative male-determining gene discovery could help develop strategies to combat malaria

A group of scientists, including one from the University of California, Riverside, have discovered a long-hypothesized male determining gene in the mosquito species that carries malaria, laying the groundwork for the development of strategies that could help control the disease.

30 Mar 2016

Embryos with abnormalities in initial stages of pregnancy may grow into healthy babies

Abnormal cells in the early embryo are not necessarily a sign that a baby will be born with a birth defect such as Down's syndrome, suggests new research carried out in mice at the University of Cambridge. In a study published today in the journal Nature Communications, scientists show that abnormal cells are eliminated and replaced by healthy cells, repairing - and in many cases completely fixing - the embryo.

29 Mar 2016

Researchers use novel technology to sequence Y chromosome in malaria spreading mosquitoes

A team of researchers with the Fralin Life Science Institute at Virginia Tech, working with a large international consortium, has sequenced the Y chromosome--the genetic driver of sex-determination and male fertility-- in a family of malaria spreading mosquitoes.

29 Mar 2016

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 shows tumor suppressor protein regulates polarity genes

What does Brad Pitt have in common with a fruit fly? His Hollywood hairstyles cover a prominent cowlick - the swirl of hair that that is caused by a patterning mechanism also active in our two-winged friends -- that similarly feature "polarized" hair patterns.

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

Gar genome helps identify genetic sequences shared by human disease genes and zebrafish

Led by Drs John Postlethwait and Ingo Braasch from the Institute of Neuroscience, University of Oregon, US, in collaboration with the Broad Institute, the study of the Spotted Gar (Lepisosteus oculatus) genome reveals that it is small and manageable. Furthermore, it lacks much shuffling and duplication that occurred in the 'main' fish ancestral line; it conserved its genome.

10 Mar 2016

Chromosome News and Research

Latest Chromosome News and Research

Researchers determine mutations in RERE gene can cause many features linked with 1p36 deletions

Person's age, mobility could be powerful predictors of survival than certain biomarkers

Scientists identify RingoA protein as key regulator of meiosis

Putative male-determining gene discovery could help develop strategies to combat malaria

Embryos with abnormalities in initial stages of pregnancy may grow into healthy babies

Researchers use novel technology to sequence Y chromosome in malaria spreading mosquitoes

Shugoshin protein maintains proper gene expression in subtelomeres

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

SLU scientist describes several tactics that can help cells overcome lesions

Genetic syndrome may underlie some Parkinson's cases

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

Scientists identify gene associated with cleft lip and palate

Virus-generated DNA lurking between human genes, show research

Researchers elucidate how cells are blind to chromosome cohesion defects

Research shows tumor suppressor protein regulates polarity genes

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

PERK inhibition can be a promising therapeutic strategy for neurodegenerative diseases

Anti-anxiety drug reduces autistic features in Jacobsen syndrome mice

Researchers identify new mutation responsible for spinocerebellar ataxia

Gar genome helps identify genetic sequences shared by human disease genes and zebrafish

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Chromosome News and Research

Latest Chromosome News and Research

Industry Focus eBook - Cell & Gene Therapy (1st Edition) eBook

Unveiling Hidden Potential: Organoids for Disease Modeling in Neuroscience Research

How GLP‑1 Agonists Are Shaping the Future of Obesity Treatment With Dr Bryony Henderson

Flow chemistry, AI, and NMR: A next-gen approach to scalable API production

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