Category Archives: Genetics

Snapshot of your working directory

We need two open source programs: Gzip is a compression utility with a high compression rate and free from patented algorithms. GnuPG is a complete and free encryption solution to protect confidential communication and digitally stored information. Create a /backup directory in each of your working directories.

backup.cmd
|wj_backup.cmd|


Write the above code in a file, put it somewhere in your path and assign an icon (I am running this from the buttonbar of TotalCommander (R)). One click – and your current directory is being saved as zip file and signed with your key.


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Convert an Access(R) database into mySQL format

That should be a pretty straightforward task: Open in Access(R) the export function, select ODBC and send the tables to your local MySQL installation. This fails, however, on my system without any useful error message.

Access2MySQL(R) of DMSoft(R) does the job, costs 55$. The trial version stops after transfering 10 datasets; nevertheless the newly created database allows an hazzle-free phpMyAdmin import of .csv exported data.

mysqlrev.png


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A database driven epidemiological questionnaire

During a past project I moved from a paper-based questionnaire directly to a database version. This has the advantage of generating at the same time an online version (with some interface scripts) and an offline version (by using a serial paper printing).

The whole package is written in standard HTML with some Cold Fusion(R) extension (where you need the Railo(R) or Blue Dragon(R) interpreter too).

Download (md5:1922125540), create a datasource “aerzte” and attached the included Access(R) database. Then run the following script in your browser.

frage.cfm
|wj_frage.cfm|


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Convert external maps to OziExplorer

Many map software vendors like German TOP 50 do not include export functions. Printing, however, is usually not a problem.

I therefore suggest to use the print function for exporting map data. Just print your desired map area into a PDF file (TOP 50 nicely allows to set anchor points for that).

A PDF printer driver will be already installed on many systems (if not, please go to sourceforge and download pdfcreator). Write down the upper left and lower right GPS coordinates of your rectangle as you will need them later in OziExplorer.

You will need to download also two graphics packages: netpbm and xpdf.

Move your PDF print export and all downloaded executables into one directory. After running the following script you will see a bmp file that can be imported and calibrated in OziExplorer. Happy navigating!

ozi.cmd
|wj_ozi.cmd|


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Is religion a natural phenomenon?

I do not want to discuss the rather polemic view of Daniel Dennetts “Breaking the spell” or promote other books of the new secularism. The Guardian digital edition writes on 29th Oct 2006

Secularism is suddenly hip, at least in the publishing world. A glut of popular science books making a trenchant case against religion have soared up the bestseller lists both here and in America. The phenomenon represents a backlash against a perceived rise in religious fundamentalism and recent crazes for ‘spirituality’ by way of books such as The Da Vinci Code. Secularists are now eager to show that the empiricism of science can debunk the claims of believers.

More interesting is the question if human morality is an inborn trait or not. Nicholas Wade has a nice essay in the NYT:

Marc D. Hauser, a Harvard biologist, has built on this idea to propose that people are born with a moral grammar wired into their neural circuits by evolution. In a new book, “Moral Minds” (HarperCollins 2006), he argues that the grammar generates instant moral judgments which, in part because of the quick decisions that must be made in life-or-death situations, are inaccessible to the conscious mind. People are generally unaware of this process because the mind is adept at coming up with plausible rationalizations for why it arrived at a decision generated subconsciously. Dr. Hauser presents his argument as a hypothesis to be proved, not as an established fact. But it is an idea that he roots in solid ground, including his own and others’ work with primates and in empirical results derived by moral philosophers.

I renember also an article by Roger Higfield in the Washington Times (24th March 2003) than unfortunately vanished from the internet:

Scientists are hunting for a “God gene” that underpins our ability to believe. The idea of genes linked with beliefs does not look far-fetched, given the influence of genetics on the developeing brain.

Higfield is refering to an empirical twin study:

To investigate the heritability of religiousness and possible age changes in this estimate, both current and retrospective religiousness were assessed by self-report in a sample of adult male twins (169 MZ pairs and 104 DZ pairs, mean age of 33 years). Retrospective reports of religiousness showed little correlation difference between MZ (r=.69) and DZ (r=.59) twins. Reports of current religiousness, however, did show larger MZ (r=.62) than DZ (r=.42) similarity. Biometric analysis of the two religiousness ratings revealed that genetic factors were significantly weaker (12% vs. 44%) and shared environmental factors were significantly stronger (56% vs. 18%) in adolescence compared to adulthood. Analysis of internal and external religiousness subscales of the total score revealed similar results. These findings support the hypothesis that the heritability of religiousness increases from adolescence to adulthood.

Time on Oct 17, 2004 referred to a book of Dean Hamer “The God Gene”

Chief of gene structure at the National Cancer Institute, Hamer not only claims that human spirituality is an adaptive trait, but he also says he has located one of the genes responsible, a gene that just happens to also code for production of the neurotransmitters that regulate our moods. Our most profound feelings of spirituality, according to a literal reading of Hamer’s work, may be due to little more than an occasional shot of intoxicating brain chemicals governed by our DNA. “I’m a believer that every thought we think and every feeling we feel is the result of activity in the brain,” Hamer says.

This looks very much like a completely physical view of spiritual affairs (Hamer became famous for his failure of the “gay gene” before abandoning science).

So we may better turn to the question if there is any theological background? I renember a famous guest lecture in Marburg 1980 about the Epistle to the Romans by Herbert Braun (Braun is a Bultmann scholar. Ernst Fuchs was in Marburg too; together with Ernst Käsemann and Günther Bornkamm they are all famous scholars of Rudolf Bultmann. Käsemann and Fuchs both wrote a “Commentary on Romans”).

Fuchs highlighted Rom 2:14 in King James translation saying:

13 For not the hearers of the law are just before God, but the doers of the law shall be justified.
14 For when the Gentiles, which have not the law, do by nature the things contained in the law, these, having not the law, are a law unto themselves:
15 Which shew the work of the law written in their hearts, their conscience also bearing witness, and their thoughts the mean while accusing or else excusing one another;

Science and theology are not far away here. Maybe it is even common sense that most humans have an inherited deep feeling of religiousness.


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Genetic code and God’s language -cont’d-

There is a new book by Francis Collins “The language of God“, one of the leading persons in human genome sequencing. As the commentary says:
Continue reading Genetic code and God’s language -cont’d-


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The Rosetta stone and the genetic code

p5080008.JPG

The Rosetta stone (I took the picture above earlier this year in the British museum) has become the key to decipher Hieroglyphic as it contained the same text also in Demotic Egyptian and Greek. Discovered by a French in 1799, brought to England in 1802 it become eventually translated in 1822 by Jean-François Champollion.
Continue reading The Rosetta stone and the genetic code


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Ethnographic studies at Oktoberfest

Having many years of experience with ethnographic studies at Oktoberfest München, I am fascinated by a new Cell paper that shows distinct behavioral responses to ethanol. This is something that I alread assumed (although I did not known about this particular RhoGAP18B isoform only about ADH deficiency). Will the knowledge of more and more mutations in the lifestyle area raise ethical problems? Yea, yea.


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Once again genetic testing

I have argued earlier that the free decision of an individual to allow genetic testing, will also reveal data on genetic relatives that have never consented to that procedure.
A new review by Bruce Weir now confirms that “it is reasonably straightforward to find the probability of the genotypes of individuals when their relationship is known…” My current work lets me also assume that with 500,000 SNP data at hand, much individual characteristics of the donor can be reconstructed – there are no anonymous DNAs datasets as some people still believe.
I even fear that genetic testing will increase for example in “homeless” (in vitro fertilized) individuals as these people will want to prevent sibling marriage – see for example the a-China DNA project. Other people may be curious about their genealogy, others about drug side effect prediction, lifestyle, assurance questions…
With every new dataset, available datasets will gradually decrease their anonymity level. I fear that anonymity is not so much a dichotomous property, it is much more a likelihood ratio to stay unknown under the probability to be known. Yea, yea.

Addendum

Time online of Dec 17, 2006 reports that the British police is holding the DNA records of more than 1m innocent people — eight times more than ministers have previously admitted. I wonder if this will affect participation rate of the UK Biobank that targets health of lifestyle, environment and genes in 500,000 people.


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Sleep well

Just came to my attention that there is research of sleep related genes, the usual stuff of protein kinases, dopaminergic receptor, and serotonine transporter. Also this research community seem to have the common difficulty of the complex disease gene mappers – to understand a phenomenon (not a trait) as systemic function, an intrinsic property of a multicellular and multiwired brain, yea, yea.

Addendum

More strange phenotypes orgasm frequency, pain, human memory performance.

Addendum

Read also the what-we-could-have-learned-from-linkage-studies.


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Heritable mutation or not?

moblog – Tsun Leung Chan is now reporting a heritable germline epimutation of MSH2 in a family with hereditary colorectal cancer another case of “paranormal” inheritance. They find a mosaic germline methylation pattern (which might even be a symptom of another mutation that affects the demethylation-de novo methylation pattern of MSH2 during embryogenesis?). If my hypothesis is true these families should even show more genes with different methylation patterns, yea, yea.

Addendum 28/5/08

Another attempt to answer this question comes by a study of the MLH1 promotor

Pro: MLH1 promoter methylation was found in a patient and his mother giving evidence for a familial predisposition for an epimutation in MLH1. Contra: a de novo set-up of methylation in one patient, a mosaic or incomplete methylation pattern in six patients, and no evidence for inheritance of MLH1 promoter methylation in the remaining families.


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What could have been learned from linkage studies

What makes the difference between genetic linkage and association studies? Simply speaking, for linkage you need to inherit a particular marker allele from your parents where it does not matter if a child in another family inherits another allele (pending it shares it with its affected sibling). With association studies this matters.

As we found with the much relaxed linkage strategy so many minor diverse loci, I assume a rather heterogeneous origin of complex diseases. There is no doubt about the importance of genes, but about the sharing of the same genetic abnormality. An (anonymous) position paper on basic Asthma Research Strategy II in Clin Exp All 2006; 36: 1326 says

The average size of effect on asthma and related traits from common SNPs is small. For instance, seven common SNPs in the IL13 gene jointly accounted for only 0,5% of the variance of total IgE … With a heritability of circa 60% for total IgE this implies that hundreds of genes, each with small effects, may be involved in IgE regulation.

Families presenting with a complex system disease will all have unique patterns how they arrive at the same clinical endpoint. Alpha-delta-gamma asthma, theta-kappa-jota schizophrenia or $%&# diabetes – are they combining lets say 3000 variations in 300 genes of 30 metabolic-signalling pathways to 1 disease of variable onset, severity and prognosis? Yea, yea.


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Free for all

A report describing some first experience with GWAs (that means genomewide association studies by single nucleotide polymorphism) is listing several websites that will offer soon public data

There are many opportunities to do research without ever writing a grant application, yea, yea.

Addendum

A German paper gives some updates – you may also check www.p3gconsortium.org and www.wtccc.org.


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A zebra takes its stripes wherever it goes

This week ends with another African proverb and some thoughts on transcription factor binding sites.

Commenting on the work of Janssens that “there is no inherent reason that CRMs [cis regulatory modules] must lie on a contiguous segment of DNA or that they must contain clusters of sites”, Halfon still expresses the hope that “we should be able to identify the regulatory elements for any gene starting with only the DNA sequence”.

Although an old dream, I am now rather sceptical if this prediction will ever work. Recognize the differences of my drawing compared to original figure: I am introducing even another level of temporal relationships. There might be even a close relationship to yesterdays post on “retaliation“, yea, yea.

zwischenablage0131.png


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Do not run after a cart that will not take you

Starting with another African proverb, here are some thoughts about evolution, design and the difference of chimps and humans. Yes, I am biased, I know.

I have learned that there are mainly three differences between chimps and human – the ability to run, a larger brain size and the language/speech capability. The only trait that can directly observed is the ability to run (check Munich marathon: Neither brain size and language can be directly observed :-) BTW, I renember having seen a family that walk on feet and hands – quadrupedal locomotion is a recessive trait linked to chromosome 17p, the way we all start our lifes).

So genetics is playing a big role in the human < -> ape differentiation. Or did the differentation select the genes?

You will understand my great expectations when now reading one of the first serious papers about the chimp and the human lineage. It is about pseudogenization, the gene loss during separation of species. The authors show 80 non-processed pseudogenes inactivated in the human lineage – while gently negelecting the fact of another 7868 or so pseudogenes in the human pseudogene database.

There is also nothing about my favorite trait bipedalism (only a ridiculous quote of pseudogenization of the sarcomeric myosin gene MYH16 that should relate to hominin masticatory muscles that “may have allowed the brain size expansion”, uhhh. It is also hard to understand how gain of ability should be caused by loss of gene function, yea, yea.


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