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Introduction to Chromosome

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Chromosome Structure and Aberrations

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Abstract

Chromosomes are vehicles of inheritance and reside inside the nucleus. First named so by Waldeyer-Hartz in 1988, the chromosomes were associated with physical basis of heredity by Weissmann in 1892 and then vehicles of genetic information or genes by Boveri and Sutton in 1902. Avery, MacLeod, and McCarty provided convincing evidence in 1944 that the genetic material in chromosomes is made up of deoxyribonucleic acid (DNA). Watson and Crick, based on the X-ray diffraction data of Wilkins and Franklin, proposed double helical structure of DNA, in which the genetic information resides in the form of triplet codons. The prokaryotic chromosomes are in the form of naked circular DNA molecules. In eukaryotes, however, the DNA in association with histone proteins forms 10 nm fiber which is variously coiled to form a thick and highly condensed chromosome. The number and structure of chromosomal set is unique for each species of animals and plants. Any deviation in the number or rearrangement of segments of chromosomes causes aberrations, which are manifested in a variety of abnormal phenotypes and/or physiological disorders. The development of understanding of structure, chemical composition, and functions of different segments of chromosomes is intimately related with the refinement of techniques used for studying chromosomes. The techniques like banding pattern, in situ hybridization, and its ever-increasing variety of modifications are broadening our understanding of chromosomes and opening new avenues for increasing productivity by genetic manipulations.

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Authors and Affiliations

  1. School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan

    Abdul Rauf Shakoori

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  1. Abdul Rauf Shakoori
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Correspondence to Abdul Rauf Shakoori .

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Editors and Affiliations

  1. Department of Education, Government of Jammu and Kashmir, Srinagar, India

    Tariq Ahmad Bhat

  2. Department of Botany, University of Kashmir, Srinagar, Jammu and Kashmir, India

    Aijaz Ahmad Wani

Glossary

Artificial chromosomes

These are synthetic chromosomes which have fragments of DNA integrated into a host chromosome. These chromosomes are useful in cloning large fragments of DNA.

Chromosome painting

It is a term used to describe the direct visualization of specific chromosomes or parts of chromosomes in metaphase spreads and in interphase nuclei, through hybridization with fluorescently labeled chromosome-specific DNA probes.

Engineered chromosomes

These are the chromosomes which have a large transgene carrying capacity, are non-integrating, and stably express in the eukaryotic cells

Human artificial chromosome

Human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. That is, instead of 46 chromosomes, the cell could have 47 with the 47th being very small, roughly 6–10 Mb in size instead of 50–250 Mb for natural chromosomes, and able to carry new genes introduced by researchers. HAC contains minimum human DNA elements such as telomere and centromere which are required for maintenance of chromosomal function.

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Shakoori, A.R. (2017). Introduction to Chromosome. In: Bhat, T., Wani, A. (eds) Chromosome Structure and Aberrations. Springer, New Delhi. https://doi.org/10.1007/978-81-322-3673-3_1

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