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To the taxonomy of human chromosomes

Komarov V.M., Samchenko A.A., Kondratiev M.S.

Institute of Cell Biophysics of RAS, 142290 Pushchino, Moscow region, Russia

Large-scale advances in genome-wide sequencing of various species of eukaryotes currently make it possible to significantly deepen the existing understanding of the important and nontrivial role of the unequal participation of nucleotide sequences (tracks) from AT- and GC-Watson-Crick pairs in the structural and functional organization of genomic DNA. They also make it possible, in our opinion, to develop some new positions in the taxonomy of chromosomes, based on the revealed correlation between the nature of spontaneous point mutations in different chromosomes and the features of the organization of the structure of short nucleotide G/C tracks within their protein-coding regions.

The main goal of this work is to illustrate how, using the methods of comparative genomics, in the human karyotype, it is possible to rank chromosomes by GC(%)-content of exons of their protein-coding regions and taking into account the length of the dominant short oligo(G)n, oligo(C)n and S(G/C)n - tracks. The influence of the internal, hidden polymorphism of hydrogen bonding of bases in Watson-Crick pairs, which determines the initial unequal participation of

(A/T)n and (G/C)n nucleotide sequences in the formation of the structural and functional properties of the genomic Eukaryotic DNA. The differentiation of 23 human chromosomes into 5 different types was revealed. Each type is characterized by its own GC-content of exon regions of protein-coding genes and has distinctive features in the predisposition of chromosomes to spontaneous structural point mutations.

The resulting division of chromosomes into groups with the specificity of the nucleotide structure of exons was found to correlate with the observed distribution of gene expression profiles across all 23 human chromosomes.

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