Science Current Events | Science News | Brightsurf.com
 
Email a Friend Send to a friend
Printer Friendly Print In a rare disorder, a familiar protein disrupts gene function

In a rare disorder, a familiar protein disrupts gene function

May 27, 2009

As reported this week in the open-access journal PLoS Biology, an international team of scientists studying a rare genetic disease has discovered that a bundle of proteins already known to be important for keeping chromosomes together also plays an important role in regulating gene expression in humans. In addition to shedding light on the biological roles of these proteins, the research may lead to the development of better diagnostic tools for Cornelia de Lange syndrome (CdLS), a multisystem developmental disease.

Ian D. Krantz, of The Children's Hospital of Philadelphia, and colleagues investigated cohesin, a protein complex consisting of at least four proteins that form a ring that encircles chromosomes during cell division. Cohesin's long-established "canonical" role is to control chromatids-the long strands that chromosomes form during DNA replication. However, one open question in biology has been, "What does cohesin do when cells are not dividing?" The paper from Krantz's team provides part of the answer, as the first study in human cells to identify genes that are dysregulated when cohesin doesn't work properly. Cohesin's role in dysregulating gene expression has attracted considerable scientific interest with a recent discovery that it may also be implicated in cancer.




Using DNA microarrays, Krantz and colleagues did a genome-wide analysis of mutant cell lines from 16 patients with severe CdLS. All the cells had mutations in the NIPBL gene, which plays a role in moving cohesin onto and off chromosomes, or in genes encoding components of the cohesin complex itself. The study team identified hundreds of genes that were dysregulated in patient samples compared to samples from healthy individuals, and also detected specific gene expression profiles that are unique to CdLS patients. Importantly, said Krantz, the expression levels of dysregulated genes corresponded to the severity of the disease.

"We found that gene expression is exquisitely regulated by cohesin and the NIBPL gene," said Krantz. "The gene expression patterns we found have great potential to be used in a diagnostic tool for Cornelia de Lange syndrome." He added that gene profiling arrays have the potential to be developed as single-platform tools to diagnose, from a patient's blood sample, not only CdLS, but also a variety of other developmental disorders.

Public Library of Science



Related Gene Expression Current Events and Gene Expression News Articles Gene Expression Current Events and Gene Expression News RSS Gene Expression Current Events and Gene Expression News RSS
It's a gas: New discovery may lead to heartier, high-yielding plants
In a research report published in the November 2009 issue of the journal GENETICS, scientists show how a family of genes (1-aminocyclopropane-1-carboxylate synthase, or ACS genes) are responsible for production of ethylene.

New research into the mechanisms of gene regulation
A team led by Penn State's Ross Hardison, T. Ming Chu Professor of Biochemistry and Molecular Biology, has taken a large step toward unraveling how regulatory proteins control the production of gene products during development and growth.

The Protein Srebp2 Drives Cholesterol Formation in Prion-Infected Neuronal Cells Which May Promote Prion-Dependent Diseases
The regulating protein Srebp2 drives cholesterol formation, which prions need for their propagation, in prion-infected neuronal cells.

Study reveals why certain drug combinations backfire
Combination drug therapy has become a staple for treating many infections. For instance, doctors treat extensively drug resistant forms of tuberculosis with one drug that breaks down the pathogen's protective barriers and opens the door for another to deliver the deathblow.

Penn Study Provides First Clear Idea of How Rare Bone Disease Progresses
An international team of scientists, led by researchers at the University of Pennsylvania School of Medicine, is taking the first step in developing a treatment for a rare genetic disorder called fibrodysplasia ossificans progressiva (FOP), in which the body's skeletal muscles and soft connective tissue turns to bone, immobilizing patients over a lifetime with a second skeleton.

Why can't chimps speak?
If humans are genetically related to chimps, why did our brains develop the innate ability for language and speech while theirs did not?

Treatment to improve degenerating muscle gains strength
A study appearing in Science Translational Medicine puts scientists one step closer to clinical trials to test a gene delivery strategy to improve muscle mass and function in patients with certain degenerative muscle disorders.

BUSM researchers show dieters can experience neurobiological similarities of drug addicts
Researchers from Boston University School of Medicine (BUSM) have shown that intermittent access to foods rich in fat and sugar induces changes in the brain which are comparable to those observed in drug dependence.

FDA approved leukemia drugs shows promise in ovarian cancer cells
The drug Sprycel, approved for use by the U.S. Food and Drug Administration in patients with chronic myeloid leukemia, significantly inhibited the growth and invasiveness of ovarian cancer cells and also promoted their death, a study by researchers with UCLA's Jonsson Comprehensive Cancer Center found.

Deciphering the regulatory code
Embryonic development is like a well-organised building project, with the embryo's DNA serving as the blueprint from which all construction details are derived.
More Gene Expression Current Events and Gene Expression News Articles
Regulation of Gene Expression

Regulation of Gene Expression
by Gary H. Perdew (Author), Jack P. Vanden Heuvel (Author), Jeffrey M. Peters (Author)

Regulation of Gene Expression: Molecular Mechanisms presents a comprehensive overview of methods and approaches for characterizing mechanisms of gene regulation. The text is appropriate both as a graduate textbook and a standard laboratory reference and provides the essential groundwork for an advanced understanding of the various mechanisms that may result in altered activity of a specific cell protein. Each of three sections explores mechanisms of gene regulation and expression, and presents methods and protocols for achieving specific experimental goals. Part I focuses on approaches for studying control of mRNA expression and determining target genes for a given transcription copy. Part II outlines the methods for determining how proteins can regulate each other by mediating...

Gene Expression and Regulation

Gene Expression and Regulation
by Jun Ma (Author)

This book offers a comprehensive look into the science of gene expression and regulation. Focusing on topics such as actions of nuclear receptors, RNA processing, and DNA methylation and imprinting, "Gene Expression and Regulation" is edited by a leading biologist and includes contributions by experts in the field. Presented in the following five sections, this book covers a full spectrum of topics: The History; The Machinery; The Regulators; The Genome; and Special Topics. The Machinery section covers the transcriptional apparatus and general transcription factors. The Regulators section examines selected gene-specific transcription factors important to regulating gene expression. The Genome section covers issues relevant to the behavior of the genome in relation to gene regulation. The...

The Psychobiology of Gene Expression

The Psychobiology of Gene Expression
by Ernest L. Rossi (Author)

Outlines the relationship between genes and human experience. The understandings of gene expression emerging from the Human Genome Project are setting the stage for a profound expansion of our understanding of life. We are just now beginning to learn how the brain, body, and genes interact in everyday life. Here, Ernest Rossi introduces the new science of psychosocial genomics and explores how it will profoundly change our understanding of the pathways of communication among mind, body, and spirit.

Gene Regulation (BIOS Advanced Text)

Gene Regulation (BIOS Advanced Text)
by David Latchman (Author)

Gene regulation is an essential process in the development and maintenance of a healthy body, and as such is a central focus in both basic science and medical research. Gene Regulation, Fifth Edition, provides the student with a clear, up-to-date description of gene regulation in eukaryotes, distilling the vast and complex primary literature into a concise overview.

For this fifth edition, in addition to extensive updating of existing material, sections on large-scale methodologies have been expanded, and a new section included on regulation by small interfering RNAs. More detail has been added on the role of multi-protein complexes in transcriptional activation and the discussion of the regulation of transcription factor activity by specific modifications to include acetylation...

Statistical Analysis of Gene Expression Microarray Data

Statistical Analysis of Gene Expression Microarray Data
by Terry Speed (Editor)

Although less than a decade old, the field of microarray data analysis is now thriving and growing at a remarkable pace. Biologists, geneticists, and computer scientists as well as statisticians all need an accessible, systematic treatment of the techniques used for analyzing the vast amounts of data generated by large-scale gene expression studies. And there is arguably no group better qualified to do so than the authors of this book.Statistical Analysis of Gene Expression Microarray Data promises to become the definitive basic reference in the field. Under the editorship of Terry Speed, some of the world's most pre-eminent authorities have joined forces to present the tools, features, and problems associated with the analysis of genetic microarray data. These include::"Model-based...

Gene Expression

Gene Expression
by Seed Media Group

A scientific blog interested in evolutionary biology, with a particular focus on evolutionary, population and quantitative genetics.

Kindle blogs are fully downloaded onto your Kindle so you can read them even when you're not wirelessly connected. And unlike RSS readers which often only provide headlines, blogs on Kindle contain full text content and images, and are updated wirelessly throughout the day.

Microarray: Gene Expression Analysis

Microarray: Gene Expression Analysis
by Virendra Gomase (Author)

Microarray is an authoritative work whose goal is to illuminate the crucial role of research methodology in the life sciences. Microarray book will adopt an inclusive editorial approach, encompassing fundamental and blue-sky science and have more immediate medical or commercial applications. The scope and structure of the work will reflect the multidimensional character of drug design, focusing in particular on the fundamental science of biological structures and systems, the use of chemical and biological techniques to elucidate that science, and the applications of this knowledge in areas as diverse as drug discovery. This book contains practical examples, theoretical approaches, a large number of examples and references. Complete theory related to drug design has been covered for the...

  Techniques in Genetic Engineering 5: Expression of Cloned Genes [VHS]
Starring: Tim Harris



Celestial Plea

Celestial Plea
by Gene Newton



Baculovirus and Insect Cell Expression Protocols (Methods in Molecular Biology)

Baculovirus and Insect Cell Expression Protocols (Methods in Molecular Biology)
by David W. Murhammer (Author), David W. Murhammer (Editor)

Baculovirus Expression Protocols is a detailed guide for using the baculovirus expression vector system (BEVS) and/or insect cells to produce recombinant proteins. Procedures for the development and production of baculovirus insecticides at both laboratory and large scale are described in the kind of step-by-step format that the Methods in Molecular Biology™ series helped standardize. This book is a one-stop source for information on baculoviruses, and includes sections on using modified baculoviruses to express genes in mammalian cells, using Drosophila cell lines, isolating new cell lines, and developing serum-free medium. Specific applications, including using baculovirus and insect cell system to study apoptosis, are also discussed. This updated and expanded edition of...

© 2009 BrightSurf.com