I have been doing some reading for a while now on the ethics of research involving model organisms, particularly the potential for studies on lower species to offer insights into human disease (and thereby contribute to the 3Rs). Some of my musings on the topic can be found here.
Aware of this interest, a colleague recommended that I read a 2004 paper published in the journal Cell. I am very grateful that he did, since the study really has the “wow” factor – demonstrating beautifully the potential of comparative genomics, experiments on model organisms and knowledge of human disease to work together to produce new insights that would have been much harder if any one component was missing. The paper is Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene by Li JB et al. The following notes are my attempt to summarise the best bits.
The importance of cilia and basal bodies in disease
The role of cilia in respiration (and the detrimental effects of smoking on their function) were features of the school biology curriculum when I was a child. However, research over the last ten years or so has demonstrated that cilia have surprisingly diverse roles in development, from determination of left-right symmetry in the body, through to formation and function of specific organs such as the kidneys (for more detail see the Wikipedia entry on Ciliopathy or, if you have access permissions, Badano et al (2006), The ciliopathies: an emerging class of human genetic disorders Annual Review of Genomics and Human Genetics 7:125-148). Bardet-Biedl syndrome (BBS) is one disorder associated with non-functional or malfunctional cilia. The clinical features can be varied, but include obesity, mental retardation, progressive-onset blindness and polydactylism (i.e. possession of extra digits). Continue reading →
December 21, 2009
Categories: paper review, research ethics, science . Tags: Arabidopsis, Bardet-Biedl syndrome, Chlamydomonas, cilia, comparative genomics, flagella, genomics, model organisms, Susan Dutcher . Author: Chris Willmott . Comments: Comments Off on When the sum is better than the parts: combining the power of comparative genomics and experiments on model organisms