Marfan Syndrome Exon CpG Percentage and Fractal Dimension

The CpG di-nucleotide percentage and exon fractal dimension fluctuation were investigated with respect to the recently identified Marfan syndrome exons in the FBN1 gene. The CpG di-nucleotide percentage was found to rank high in exon 1 (9%), exon 44 (6.5%), exon 24 (5.3%) and exon 27 (4.8%). The most significant Marfan exon group was reported to be exon 24- 32. An exon nucleotide sequence can be expressed as a numerical sequence when each nucleotide is assigned its proton number. The resulting exon nucleotide numerical sequence could be investigated for its fractal dimension. The fractal dimension exhibited fluctuation across the 65 FBN1 exons and the values formed a Gaussian-like distribution (N = 65). The moving average fractal dimension was found to exhibit a broad peak around exons 24 to 32, consistent with the reported Marfan syndrome exon group.

[1]  T. Higuchi.  Approach to an irregular time series on the basis of the fractal theory , 1988 .

[2]  J. Coselli,et al.  Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. , 1996, Circulation.

[3]  James A. Glazier,et al.  The fractal structure of the mitochondrial genomes , 2002 .

[4]  V. Anh,et al.  Fractals in DNA Sequence Analysis , 2002 .

[5]  Derek Abbott,et al.  MUTUAL INFORMATION FOR EXAMINING CORRELATIONS IN DNA , 2004 .

[6]  D. Brutlag,et al.  A genome-wide analysis of CpG dinucleotides in the human genome distinguishes two distinct classes of promoters , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[7]  J. G. Grossmann,et al.  Nanostructure of fibrillin-1 reveals compact conformation of EGF arrays and mechanism for extensibility , 2006, Proceedings of the National Academy of Sciences.

[8]  Chang-Yong Lee.  Mass fractal dimension of the ribosome and implication of its dynamic characteristics. , 2006, Physical review. E, Statistical, nonlinear, and soft matter physics.

[9]  D. Haussler,et al.  An RNA gene expressed during cortical development evolved rapidly in humans , 2006, Nature.

[10]  Todd Holden,et al.  ATCG nucleotide fluctuation of Deinococcus radiodurans radiation genes , 2007, SPIE Optical Engineering + Applications.

[11]  Hongde Liu,et al.  Studies of Hurst Index for Different Regions of Genes , 2007, 2007 1st International Conference on Bioinformatics and Biomedical Engineering.

[12]  M Claustres,et al.  Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. , 2007, American journal of human genetics.

[13]  J. Stockman.  Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor , 2008 .