Category Archives: Genetics

Monorail

X chromosomal inactivation is difficult enough to understand – there are now some more data on autosomal monoallelic expression (editorial & paper). Up to 10% of 4,000 genes in clonal cell lines were found to be monoallelic expressed (and up to 20% in some B cell clones). Only odorant and T cell receptors are selectively expressed while all other genes are thought to be randomly silenced.
I wonder how any transmission disequilibrium test makes sense if a variant is only transmitted to a silent chromosome? Possibly there are also epigenetic feedback loops where proteins can remodel chromatin and induce epigenetic marks ultimately silencing a chromosomal region. In any case, a fundamental paper, yea, yea!

 

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My second paper

isn´t my second paper as this NEJM letter was sent out without me. Authorship rules are less well defined than generally assumed. Why counting impact points from publication lists if these do not reflect your previous work?

 

CC-BY-NC Science Surf accessed 06.11.2025

Finally the ß2 receptor

The full crystal structure of the ß2 receptor is now clear after many attempts for its low natural abundance – with the extracellular domain still difficult to resolve (more on the relevance of the mutations depicted in Fig.1 in my recent Lancet editorial). Interesting: the effects of mutations on distant sites by breaking off van der Waals interactions like I135 that disrupt a ionic lock simply by a more loosely packed molecule.

 

CC-BY-NC Science Surf accessed 06.11.2025

First 25OH-D3 GWA online

The first genomewide association for vitamin D serum levels is already online as the Framingham people told me earlier this day, many thanks!

d3gwa.png

There are 3 important regions on the above figure figure: around rs1394615, rs1877165 and rs2160595, see also the attached excel sheet fram25ohdexam6or7agesexadj.xls.

What are the reasons that my linkage study arrived at completely different regions? The accompanying BMC Genetics paper even highlights 2 different SNPs: rs1048516 + rs10507577). Anyway, the best region in my opinion is on chromosome 6. Here are the significant SNPs in relation to their neighboring genes: Continue reading First 25OH-D3 GWA online

 

CC-BY-NC Science Surf accessed 06.11.2025

Who’s the boss?

A news focus in Science Magazine asks “Who’s the queen? Ask the genes” and shows new research that in some social insects nature, not nurture, determines whether offspring becomes worker or royalty.
I am not aware of any genetic studies of bosses but there might be also inherited personality traits in humans that favor a certain behavior.
Given my interest in a German gene-test law and the corresponding passivity of the German government, I am now proposing a “Biobank German Bundestag” that will allow me to go for gene variants that make our representatives different from us, the commonalty. I am sure that we will have a gene test law within 12 months …

 

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You may fool all the people some of the time

Nature news reports an unpublished meta analysis of Cesarean section and asthma risk. The authors interpret the outcome in the light of the hygiene hypothesis: unhygienic siblings, risky! Normal delivery, risky!! No early bullshit, risky!!!
Again, delivery mode may be a proxy for physician contact and iatrogenic causes. Having heard today also lectures that take the hygiene hypothesis for granted, the old adage comes to my mind:

You may fool all the people some of the time. You can even fool some of the people all of the time. But you cannot fool all of the people all the time.

 

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Origin of toll like

I always thought that toll like receptors owe their name to the toll function of the immune system. As I learned only today, the origin is with the German “toll” (amazing, phantastic) ascribed by Christiane Nüsslein-Volhard to a Drosophila protein.

 

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GPS for biological pathways

After running a dual core CPU for two weeks I have a list here of all transcripts that are associated with the “ORMDL3” SNP gene cluster. Making sense from this list is a difficult task even with dozen of dedicated websites.
To get an overview of what is available I would start Continue reading GPS for biological pathways

 

CC-BY-NC Science Surf accessed 06.11.2025

What’s in your genome?

My latest idea is to create a wiki like annotation server that lets everybody create rules how to analyze an individual genome – we could use the CV dataset as a testbed.
Maybe we should start with SNPs only and develop some ground rules first at which threshold any predictive rule may be applied?
Otherwise these personal genomes will be quite useless, yea, yea.

 

CC-BY-NC Science Surf accessed 06.11.2025

Want to work with you

Over and over I am flooded with emails like

Let me introduce myself to you. I am xxxxxxxxxx, completed M. Sc Micro Biology. At present I am working as a research Fellow in Centre for xxxxxxxx, xxxxxxxxxx, India. How are you sir? I am your student. How can I mean, in January 2005 you come to India. At that time your engaged some class to us in xxxxxxxxx College, Axxxxxxxx. Presently I am working on Genetics of “xxxxxxxxxxxx” under the esteemed guidance of Dr. xxxxxxxxxxx and Dr. xxxxxxxxxx. I am very much interested to do PhD. Herewith, I am sending my curriculum Vitae as attachment to your kind perusal. I assure you, I shall work with at most devotion and sincerity to give you satisfaction and also I am confident that I can lead PhD successfully with the experience I gained during my research work at xxxxxxxxx. Given a chance I will prove my caliber.

Continue reading Want to work with you

 

CC-BY-NC Science Surf accessed 06.11.2025