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Cytogenetics

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Genetics of the Mouse

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Abstract

Cytogenetics, as the name indicates, lies at the intersection between cell biology and genetics. It came into being as an independent discipline after the advent of the chromosomal theory of heredity at the beginning of the twentieth century, when W.S. Sutton and T.H. Boveri (then T.H. Morgan) identified the chromosomes as the physical structures on which the genes were anchored (1902–1915).

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Notes

  1. 1.

    Thomas H. Morgan was awarded the Nobel Prize in Physiology or Medicine in 1933 for his discoveries concerning the role played by the chromosomes in heredity. Morgan proposed that each chromosome contains a collection of small units called “genes” that were linearly arranged on the chromosomes.

  2. 2.

    A technique for rapid chromosome staining is provided at: http://www.jax.org/cyto/marrow_preps_alt.html.

  3. 3.

    The total number of chromosome arms per set of chromosomes is called the fundamental number (nombre fondamental) after Matthey.

  4. 4.

    UpD are exceptions that will be discussed later in this chapter and in Chap. 6.

  5. 5.

    Sometimes called nullosomies.

  6. 6.

    Mosaics refers to organisms whose cells have a different genetic makeup, although they are all derived from the same egg. Mice composed of both XO and XX cells, because one X was lost during development, for example, are mosaics. Chimeras are organisms whose cells do not have the same genetic makeup because they are derived from different embryonic cells. Mosaicism is natural, while chimerism is, in most instances, the result of experimental manipulation.

  7. 7.

    Tabby (Ta) is an X-linked coat color and fur marker. X Ta X + females are striped; X Ta Y males have a typical coat color with bare patches behind the ear, greasy fur, and a “sticky” tail. A Ta-striped male is then unexpected unless it is XXY. A female with a Tabby [Ta] phenotype is expected to be X0.

  8. 8.

    The theoretically expected 25 % of mice with a 39,0Y karyotype die at a very early stage of development because of the X nullisomy. X0 females seldom produce more than 10 % X0 offspring and have a reduced stock of oocytes, resulting in a much shorter breeding period than normal XX females.

  9. 9.

    Chromosome 2 appears to be more frequently involved in reciprocal translocations than expected based on its size (27 occurrences). The reason for this bias is unknown.

  10. 10.

    The reciprocal translocation T26H is one of the very few exceptions because it is associated with a coat-color change visible only in homozygous (T26H/T26H) animals. This change is probably a consequence of an alteration at the Agouti locus (Chr 2) generated by the structural rearrangement.

  11. 11.

    Experiments involving crosses between translocation carriers (T/+) are difficult to achieve because semi-sterility dramatically reduces progeny sizes. In addition, and as commented, some reciprocal translocation carriers are infertile, impeding many experiments.

  12. 12.

    A deletion (Del) is different from a deficiency (symbol Df) by its origin. Deficiency for a chromosome segment is generally associated with a duplication (Dp) of the same segment and results from the abnormal (unbalanced) segregation of a structurally rearranged chromosome.

  13. 13.

    In this case, the targeted cells were the late spermatids or spermatozoa.

  14. 14.

    Several autosomal primary trisomies have been described in the human species, but only three, trisomies for chromosome 13 (Patau syndrome), for chromosome 18 (Edwards syndrome), and for chromosome 21 (Down syndrome), affect live born children. Patau and Edwards syndromes are extremely severe. The relatively low gene density on chromosome 21 is consistent with the observation that trisomy 21 is one of the only viable human autosomal trisomies.

  15. 15.

    HSA21 = abbreviation for Homo sapiens chromosome 21; MMU16 = abbreviation for Mus musculus Chr 16.

  16. 16.

    This estimation of the number of genes on human chromosome 21 (HSA21) is from S. Scherer, A short guide to the human genome, Cold Spring Harbor Laboratory Press, 2008, p21.

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Acknowledgments

The authors are appreciative of the critical comments on the present chapter provided by Drs. Marie Geneviève Mattei (Hôpital de la Timone, Marseille) and Yann Herault (Institut Clinique de la Souris, Strasbourg).

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Authors and Affiliations

  1. Institut Pasteur, Paris, France

    Jean-Louis Guenet

  2. Department of Molecular Carcinogenesis Division of Basic Science Research, The University of Texas MD Anderson Cancer Center, Smithville, TX, USA

    Fernando Benavides

  3. Mouse Functional Genetics Unit, Institut Pasteur, Paris, France

    Jean-Jacques Panthier & Xavier Montagutelli

  4. Ecole Nationale Vétérinaire d’Alfort, 4, avenue du Général de Gaulle, Maisons-Alfort, France

    Jean-Jacques Panthier

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  1. Jean-Louis Guenet
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  2. Fernando Benavides
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Correspondence to Jean-Louis Guenet .

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Guenet, JL., Benavides, F., Panthier, JJ., Montagutelli, X. (2015). Cytogenetics. In: Genetics of the Mouse. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44287-6_3

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