Tag Archives: genome

Gene expression and regulation: It’s the location, baby.

Perhaps it is something like the real-estate business. What three things make a difference for selling a house? Location, location and location. Thus it may be for at least some of the crucial genes involved in the development of the human embryo. Specifically, researchers at the European Molecular Biology Laboratory (Heidelberg, Germany) found that the [...]
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Fetal DNA sequencing: Reading ma and pa’s genome

Depending on how successful interpretation of the personal genome becomes, any method that makes the process easier for collecting the DNA is progress. That’s one way of saying that the future of personal genome medicine depends on the research that finds the links between genes and disease, and how easy and inexpensive it is to [...]
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Bonobo Genome: Our ever-lovin’ kin get closer

Ulindi, a bonobo to love……..credit: Michael Seres These days the genome sequencing of yet another plant, animal or insect barely raises an eyebrow, even in the scientific community. It’s important work that increasingly powerful technology and declining cost has made routine, which is a good thing. Once in a while though, a new ‘complete genome [...]
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New sequencing technique opens doors for epigenetics

What’s the difference between 5mC and 5hmC? Yes, the “h” but it is much more than that. Both are in biochemistry shorthand, which unless you’re a geneticist or biochemist you’ve probably never heard of and are not likely to remember. So let’s cut to the chase, oversimplified though it may be: As you almost certainly [...]
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microDNA: A new piece of genetics puzzle

In the beginning the big discovery was the existence of DNA and RNA. Eventually more refined experiments and better equipment revealed that RNA in particular came in many forms and functions, for example, micro RNA (miRNA) for DNA regulation or piwi-interacting RNA (piRNA) for transposon defense. So far there are 25-27 types of RNA. However, [...]
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Personal genome disease risk analysis: New study finds important limits

As the cost of sequencing a person’s genome has sharply declined, the enthusiasm for using that genomic knowledge to predict susceptibility to gene-based illness has grown. In fact, it’s been one of the most common topics of medicine in the public media for more than a year. This includes intense debates about whether it is [...]
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Human genetics: The mysterious unequal mutation by sex

By the numbers, geneticists thought about mutations like this: There are six billion pieces (nucleotides) of genetic information in the genome. Three billion provided by the mother and three billion from the father. Based on evolutionary studies, previous estimates reckoned about 100-200 mutations would be passed on to each child. It was assumed that because [...]
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Breast cancer study: 50 women, 1700 genetic mutations

It isn’t always true for science, but it sure seems like the more we learn, the more complicated the knowledge becomes. Take breast cancer for an example. Every few months a new study is published that announces the discovery that this that or another gene is ‘linked to breast cancer.’ Likewise there is a stream [...]
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Part of what makes us human may be what’s missing

Here’s one of those scientific questions that contains a highly suggestive fact: Why is it that the tiny water flea (Daphnia pulex) has a record 31,000 genes and the human – the infinitely more complex human – has only 23,000 genes? Here’s another similar question: How is it that the human species is so different [...]
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Oh Daphnia, why so many genes?

Ms. Water flea, Daphnia pulex…..credit: Wiki Commons This equal sign, =, is about as big the known champion of the gene-filled genome. Little Daphnia pulex, variously labeled a crustacean (like shrimp) or ‘the water flea,’ is the first of its subphylum to have its genome sequenced. Lo and behold: Daphnia’s genome has more genes – [...]
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“Gentlemen, engineer your astronauts.”

“I say let’s build better astronauts.” Craggy Windman was serious. He was standing on the dais in a slept-in Armani suit, tie undone, disheveled salt-and-pepper beard and talking to an assembly of rocket scientists. (Yes, you had to be a rocket scientist with a NASA badge to get into the room.) He stabbed his pointer [...]
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The shape of the genome influences genetics

Fission yeast genome……Credit: Wistar Institute It looks like a loose ball of yarn, as in the picture above. In fact, it’s the genome of a common yeast (S. pombe). The human genome spends most of its time in a ball something like this. The familiar “X” shaped chromosomes occur only at the time of cell [...]
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A new field for medicine: Genetic risk intervention

If you’ve heard anything about personal genome testing, it’s that such tests can sometimes reveal people are carriers of genetic mutations that increase the risk of certain diseases. There are many examples with more added each year, such as the BRCA1/BRCA2 genes associated with breast and ovarian cancer. If you’re a woman whose genome has [...]
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Promised cures that stay on the horizon

In this age of hyperbole and disingenuous narrative, it’s important to have keen and skeptical appraisal. This is true even (or especially) when it comes to life-saving cures and the promises of the end to various terrible afflictions. Part of the reason for skepticism is simply to manage expectations. The people developing or marketing their [...]
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A form of muscular dystrophy depends on ‘junk’ DNA

Back in February of this year (2010) a study in Nature reported on finding a segment of human DNA, one of the areas in the so-called ‘junk genes,’ that contributed to a form of coronary artery disease. [SciTechStory: Junk DNA that actually does something] Now there is another study, in the magazine Science [A Unifying [...]
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Transposons and the dynamic genome

Most people know that DNA can mutate – genetic sequences can be altered and carried on by reproduction. Less well known is that DNA also changes, in a sense mutates, during the life cycle of a normal cell – with or without reproduction. There are sequences of DNA that can move about to different positions [...]
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Update: Research on ‘old-age genes’ challenged

Thesis, antithesis, synthesis – is a primary pathway of science. Researchers trot out a hypothesis (hopefully backed up with evidence). Other researchers challenge the hypothesis, often through their own research results. Eventually the original hypothesis is confirmed, rejected, or in some way modified. Science moves on. The process may start with scientists presenting a research [...]
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New for epigenetics: Active pseudogenes and RNA as gene regulator

How is it that the human genome, with about 23,000 protein coding genes, can produce such a complicated organism as the human being, when the laboratory flatworm (C. elegans, a relatively simple organism) has about 20,000 coding genes? It seems fairly obvious that there must be something else at work in more complex organisms that [...]
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The Human Genome Project: Ten years later

Ten year retrospectives are a popular form of gazing at near history. So it is with looking at the results of the first complete sequencing of the human genome (first draft released June 26, 2000). The Human Genome Project was a three billion dollar multi-year program that finally achieved the long sought genome-wide catalog of [...]
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Synthetic life, as developed by Craig Venter et al

May 21, 2010: This is one of those days when one story is likely to dominate the science news. It will also be writ large in the world’s news. Craig Venter, the name has to come first, and his research team has claimed creation of the first synthetic life. It should also be a good [...]
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Fascinating: Many of us have genes from Neanderthals

One way or another many human beings carry a percentage of their DNA inherited from Neanderthal man. This has been suspected for some time (not only in comedy routines); now there is genetic data to back it up. An international team of scientists coordinated at the Max Planck Institute of Evolutionary Anthropology (Leipzig, Germany) and [...]
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The growing GWAS controversy

There’s nothing like ignorance to fuel a controversy, even if it’s scientific ignorance. A controversy is brewing over the idea of personalized medicine based on the analysis of an individual’s genome through genome-wide association studies, or GWAS. Enabled by the ever decreasing cost of analyzing the human genome, some scientists believe it is possible to [...]
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Surprise verdict in U.S. gene patent case

Most people think they own their DNA – “My genes, my body.” Well of course you do. Except when it comes to analyzing those genes. Right now companies own patents on about 2,000 of your genes. Typically they make equipment and/or procedures to analyze them. So far, this is legal in the United States, which [...]
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Clinical genetics: Two cases

The prospect of being able to identify genetic problems in the genome of an individual and then link that to a specific disease or disability – that’s been on scientists’ minds for a long time. Since the completion of the Human Genome Project in 2003 the prospects have become even better. The sequencing technology is [...]
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New study: Metagenomics gets a gut feel

I couldn’t resist the pun in the title of this post: Metagenomics gets a gut feel. The newly released study behind it, which is having considerable play in the media and on the internet, is the first genetic catalog of the microbes (bacteria, fungi, others) that make up the microbiome (ecosystem) of the human gut. [...]
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