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Interpreting Chromosomal Rearrangements in the Context of 3-Dimentional Genome Organization: A Practical Guide for Medical Genetics

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Abstract

In this exciting era of “next-gen cytogenetics”, the use of novel molecular methods such as comparative genome hybridization and whole genome and whole exome sequencing becomes more and more common in clinics. This results in generation of large amounts of high-resolution patient-specific data and challenges the development of new approaches for interpretation of obtained information. Usually, interpretation of chromosomal rearrangements is focused on alterations of linear genome sequence, underestimating the role of spatial chromatin organization. In this article, we describe the main features of 3-dimentional genome organization, emphasizing their role in normal and pathological development. We highlight some tips to help physicians estimating the impact of chromosomal rearrangements on the patient phenotype. A separate section describes available tools that can be used to visualize and analyze human genome architecture.

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Abbreviations

3C:

chromosome conformation capture (technology)

ChIP:

chromatin immunoprecipitation

DSBs:

double-strand DNA breaks

Hi-C method:

high-throughput extension of 3C technology

IGH:

immunoglobulin heavy chain

TADs:

topologically associating domains

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Authors and Affiliations

  1. Federal Research Center, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 63009, Novosibirsk, Russia

    V. S. Fishman, P. A. Salnikov & N. R. Battulin

  2. Novosibirsk State University, 630090, Novosibirsk, Russia

    V. S. Fishman, P. A. Salnikov & N. R. Battulin

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  1. V. S. Fishman
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  2. P. A. Salnikov
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  3. N. R. Battulin
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Correspondence to V. S. Fishman.

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Fishman, V.S., Salnikov, P.A. & Battulin, N.R. Interpreting Chromosomal Rearrangements in the Context of 3-Dimentional Genome Organization: A Practical Guide for Medical Genetics. Biochemistry Moscow 83, 393–401 (2018). https://doi.org/10.1134/S0006297918040107

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  • DOI: https://doi.org/10.1134/S0006297918040107

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