Chapter 13: Chromosomal Rearrangements and Changes in Chromosome Number
When available, the links under the Suggested Readings section will take you to websites
that either provide free electronic full-text versions of these references, or links to online
abstracts. All of these abstracts are themselves free. Many of the abstract sites contain
links to online full-text versions of the references; some of these full-text versions are
free, while others require personal or institutional subscriptions. None of the sites that can
be accessed through the links below are affiliated with McGraw-Hill Publishers
Historical Articles Describing Early Investigations on Chromosomal Rearrangements,
Transposable Elements, and Variations in Chromosome Number
Selected Readings:

Carter CO, Hamerton JL, Polani PE, et al. 1960. Chromosome translocation as a
cause of familial mongolism. Lancet. 2:678-680. [Entrez-PubMed link]
Familial mongolism was an early term for Down syndrome. This early paper
examines evidence for non-disjunction Down syndrome.

Engles WR. 1983. The P family of transposable elements in Drosophila. Annu
Rev Genet. 17:315-344. [Entrez-PubMed link]
This review article summarizes much of what was known regarding P elements
until the early 1980s. It sets the stage for much of the work on hybrid dysgenesis
in the next decade.

Kleckner N. 1981. Transposable elements in prokaryotes. Annu Rev Genet.
15:341-404. [Entrez-PubMed link]
A review article on TEs in bacteria. Contains discussions of Is elements and Tn.

McClintock B. 1950. The origin and behavior of mutable loci in maize. Proc. Natl
Acad Sci USA. 36:344-355. [Full text link]
McClintock’s groundbreaking paper that first introduced the concept of
transposition of heterochromatin from one area of the genome to another as an
explanation for “mutable loci”.

McClintock B. 1953. Induction of instability at selected location in maize.
Genetics. 38:579-599. [Full text link]
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In this follow-up to her 1950 manuscript, McClintock makes a detailed
examination of the Ds-Ac loci in corn to provide additional evidence of
transposition.
Recent Reviews and Research Articles on these Topics, with Special Emphasis on the
Use of Transposable Elements as Tools for Molecular Genetic Analysis
Selected Readings:

Collier LS, Carlson CM, Ravimohan S. 2005. Cancer gene discovery in solid
tumors using transposon-based somatic mutagenesis in the mouse. Nature.
436(7048): 272-276.[Entrez-PubMed links]
This article describes the use of the Sleeping Beauty transposon to generate lossof-function or gain-of-function mutations to study the potential influence of target
genes in cancer.

Obe G, Pfeiffer P, Savage JR, et al. 2002. Chromosomal aberrations: formation,
identification and distribution. Mutat Res 504(1-2):17-36.[Entrez-PubMed link]
The research presented in this paper uses FISH to examine the areas of
chromosomes that are potential hot spots for chromosomal structural changes.

Seregaza Z, Roubertoux PL, Jamon M and Soumireu-Mourat B. 2006. Mouse
models of cognitive disorders in trisomy 21: a review. Behav Genet. 36(3): 387404 [Entrez-PubMed link]
By using homology maps between the mouse and humans, this paper studies
specific regions that may play a role in trisomy-21 behavioral phenotypes.
A Database Cataloging Human Chromosomal Abnormalities that have been
Characterized by Fluorescence in situ Hybridization (FISH) and Comparative
Genomic Hybridization (CGH)
Selected Readings:
 Knutsen T, Gobu V, Knaus R, et al. 2005. The Interactive Online SKY/M-FISH
& CGH Database and the Entrez Cancer Chromosomes Search Database: linkage
of chromosomal aberrations with the genome sequence. Genes Chromosomes
Cancer. 44(1):52-64. [Full-text link]
This paper describes the background of the project, previous FISH and CGH
databases, and the formation of the Interactive Online SKY/M-FISH & CGH
Database.
Websites:
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
SKY/M-FISH & CGH Database
http://www.ncbi.nlm.nih.gov/sky/skyweb.cgi
The portal to the online database. Brief descriptions of the SKY, M-FISH and
CGH procedures are provided, as are links to earlier databases.
Online Maps Comparing the Organization of Human Chromosomes with those from
Mice and Rats.
Websites:

National Center for Biotechnology Information
http://www.ncbi.nlm.nih.gov/Omim/Homology/
The Davis Human/Mouse Homology Map. Homologous relationships can be
examined by clicking on any of the numbered mouse or human chromosome
numbers at the top of the page.

Mouse Genome Informatics
http://www.informatics.jax.org/reports/homologymap/mouse_human.shtml
This site presents the mouse genome in graphic format. Human homologies can
be obtained by clicking on the individual chromosomes. Instructions are provided
at the bottom of the page.
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