The scope of this project is the exploratory application of information theory to basic and clinical research on the relationships between sequences of DNA, of RNA, and of the related proteins. It is largely based on the work of Dr. T. Schneider of NCI, et al, on DNA splice site analyses. Collaborative development of processing algorithms for the information content of macromolecular sequences as well as communication of data, processing methods, and results among researchers in diverse fields are involved. We have done a comprehensive analysis of the splice sites in the DQA2 gene in sheep for Dr. Huitong Zhou of the Animal & Food Sciences Division, Lincoln University, Canterbury, New Zealand. We look forward to finding some of the differences between human and sheep splicing. It is expected that these differences will be small, but significant, when compared to the similarities. A few analyses have been performed on mutations in the SOD1 gene being studied by Mr. S. Rajkumar, a Senior Research Fellow at the Iladevi Cataract & IOL Research Centre in Ahmedabad, Gujarat, India, for his Ph.D. thesis. A brief but intense effort with Dr. Ehud Goldin of NINDS has allowed us the privilege of looking at splicing effects in the first known case of inherited mitochondrial DNA transfer causing a genetic disease. Although the results of splicing analysis in this case were not straightforward, as one might expect, they have provided aid to the study. A manuscript describing this work has now been published (reference 1).
| Goldin, Ehud; Stahl, Stefanie; Cooney, Adele M et al. (2004) Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Hum Mutat 24:460-5 |
