Posts by Sam Rose

Pubic hair microbes as a forensic tool

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After watching CSI, and with forensic science being more advanced than ever, it’s easy to presume that criminals leave DNA traces everywhere that can help to make a conviction if they are caught.

Human hairs come to mind as a great place to start, however, the majority of samples recovered at crime scenes are shed hairs containing insufficient levels of nuclear DNA, meaning they cannot be used to make an identification. This is because short tandem repeat (STR) analysis is performed on crime-scene DNA, where probes are attached to the sample, then it is amplified in length by a polymerase chain reaction (PCR) to create a DNA fingerprint. Two samples can then be compared to find if there’s a match. With …

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Making sense of methylation and methodology

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ClEp blog

New research published today in Clinical Epigenetics questions the methods used in some studies for assessing DNA methylation in cancer, calling for the use of only quantitative techniques. This is a guest blog by Dr Annette Lim (Peter MacCallum Cancer Center, Australia) and Dr Alexander Dobrovic (Ludwig Institute for Cancer Research and Olivia Newton-John Cancer Research Institute, Australia) to explain more about the importance of how we measure DNA methylation in cancer.

Given the critical role of methylation in embryogenesis, it is not difficult to expect that dysregulation of methylation will be a fundamental element in the evolution of uncontrolled cell cycling within the cancer genome. As such, the identification of altered methylation in tumours has held promise of unlocking …

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Females dominate throughout history

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Chromosomes

Not only do our genes hold information about us, they can also tell us a great deal about the history of our species. This includes details about ancient migrations, subpopulation size and structure, and even estimates of the overall human population size at any one time. In addition, different parts of the genome can tell us different branches of our history; the Y chromosome is passed on through the male line, and can provide information about paternal family history. Conversely, we inherit our mitochondrial DNA from our mothers, providing insights into our maternal branch ancestors.

New research published today in Investigative Genetics reveals that the effective female population has been larger than the male population throughout human history, …

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Jeans for Genes Day: putting the spotlight on genetic diseases

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While not all rare diseases are genetic, individual genetic disorders are rare. But despite individual genetic disorders being rare, collectively they affect 1 in 25 children. Furthermore, 80% of rare diseases are caused by faulty genes. Therefore when we discuss genetic diseases it is in essence a discussion on rare diseases.

Today marks Jeans for Genes Day, a fundraising event organized by Genetic Disorders UK to raise money for causes that help children with genetic diseases. There are more than 6,000 known genetic disorders, and this number is constantly increasing as patient sequencing technologies become more accessible. Genetic diseases can affect a person’s senses, movement, ability to learn or appearance, and can range from split-hand/split-foot malformation, a congenital …

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Santa Fe loves mobile DNA

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The field of mobile DNA is currently a very exciting area of genetics and genomics research. It was once assumed that transposable elements were useless DNA sequences that incorporated into host genomes, forming ‘junk DNA’. In recent years, however, the significance of these genetic elements has been increasingly realized, with studies regularly being published hinting at the function of transposable elements in the host genome.

It seems that some of these suspected functions are damaging to the host, and others may even be beneficial; either way, the contribution of mobile elements to genome evolution is now a hugely interesting area, providing new insights into the evolutionary ‘arms race’ between organisms.

 

On March 9-14th, BioMed Central attended the Keystone meeting Mobile …

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Joining together for better care: celebrating Rare Disease Day 2014

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Rare Disease Day is an annual, awareness-raising event co-ordinated by the European Organization for Rare Diseases (EURORDIS), national alliances and patient organisations. Rare diseases are easily neglected, and this international advocacy day is important because everyone living with a rare disease should be able to receive high-quality services, treatment and support. Although these diseases are rare individually, collectively they are not, with 1 in 17 people being affected by a rare disease at some point in their life.

The theme of Rare Disease Day 2014 is “care”, with a focus on encouraging the rare disease community to join together for better care,  from practitioners to policymakers, social services to scientists, policy makers, …

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Proceedings from the 39th Indian Society of Human Genetics conference

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Kalam-Liehr - blog pic

The proceedings from the International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics have been published as a supplement in Molecular Cytogenetics. The meeting took place on the 22-25 January, 2014, in Ahmedabad, India.

Former President of India, Dr A. P. J. Abdul Kalam, inaugurated the conference, and can be seen handing the journal supplement to the Molecular Cytogenetics Co-Editor-in-Chief Thomas Liehr (Friedrich Schiller University, Jena, Germany).

From left: Prof. Jayesh Sheth (head of FRIGE’s Institute and organizer of this annual meeting); Hon’ble Former President of India Dr A P J Abdul Kalam; Mr. Akshay Saxena (Mission director, Gujarat State Biotech Mission); Prof. Alok Dhawan …

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One to three men fathered most western Europeans

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A recent study published in Investigative Genetics has shown that the genetic lineage of most Western Europeans started from just one to three men, sparking many and varied online discussions.

The study, led by Chris Tyler-Smith, involved producing a model to investigate the expansion of Neolithic genetic lineages throughout Africa and Europe. Both Africa and Western Europe have a predominant genetic lineage, or haplogroup, and genetic and archaeological evidence show that both of these haplogroups expanded in their respective populations during the Neolithic period (from about 10,000BC to 3000BC).

The haplogroups investigated in this study are variations of the Y chromosome, only present in men. Using advanced sequencing tools it was therefore possible to produce a model …

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‘Non-coding RNA’ thematic series – call for submissions

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Epigenetics & Chromatin is inviting submissions for a thematic series on non-coding RNA, edited by Frank Grosveld (Erasmus University Medical Center, Netherlands) and Steven Henikoff (Fred Hutchinson Cancer Research Center, USA).

This article collection focuses on understanding the mechanisms of non-coding RNA, describing insights into the biogenesis and activity of non-coding RNAs, their interaction with chromatin, and novel methods for analysis and manipulation of RNA-mediated regulation.

The thematic series is open for the submission of Research articles on all aspects of non-coding RNA, including novel findings related to long-, short- and micro- RNAs. Articles already published in the series include an insight into the silencing mechanism by the long non-coding RNA XIST that …

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Journal of Biological Research-Thessaloniki is now open for submissions!

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Journal of Biological Research-Thessaloniki (Impact Factor 0.62) is a peer-reviewed, open access, international journal that publishes articles providing novel insights into the major fields of biology. The journal has transferred to publishing with BioMed Central after being self published since 2004, and is now accepting submissions via the new website. All back content can be found in the archive.

Topics covered in Journal of Biological Research-Thessaloniki include, but are not limited to: molecular biology, cytology, genetics, evolutionary biology, morphology, development & differentiation, taxonomy, bioinformatics, physiology, marine biology, behavior, ecology and conservation. The journal will consider original Research, Reviews, Short Reports and Hypotheses that present novel findings advancing any field of biology. In addition, the journal will …

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