The theory and practice of genetics took a major step forward in the early part of the twentieth

century with the development of the notion that the genes, as identified by Mendel, are parts of
specific cellular structures, the chromosomes. This simple concept has become known as the
chromosome theory of heredity. Although simple, the idea has had enormous implications,
providing a means of correlating the results of breeding experiments such as Mendel’s with the
behavior of structures that can be seen under the microscope. This fusion between genetics and
cytology is still an essential part of genetic analysis today and has important applications in
medical genetics, agricultural genetics, and evolutionary genetics.

Evidence from cytology

Evidence accumulated from a variety of sources. One of the first lines of evidence came from
observations of how chromosomes behave during the division of a cell’s nucleus. Mendel’s results
lay unnoticed in the scientific literature until 1900, when they were repeated independently by
other researchers. In the late 1800s, biologists were keenly interested in heredity, even though they
were unaware of Mendel’s work. One key issue of that era was the location of the hereditary
material in the cell. An obvious place to look was in the gametes, because they are the only
connecting link between generations. Egg and sperm were believed to contribute equally to the
genetic endowment of offspring, even though they differ greatly in size. Because an egg has a great
volume of cytoplasm and a sperm has very little, the cytoplasm of gametes seemed an unlikely
seat of the hereditary structures. The nuclei of egg and sperm, however, were known to be
approximately equal in size, so the nuclei were considered good candidates for harboring
hereditary material.

It became clear that their most prominent components were the chromosomes. Between cell
divisions, the contents of nuclei appear densely packed and difficult to resolve into shapes. During
cell division, however, the nuclear chromosomes appear as worm-shaped structures easily visible
under the microscope. Chromosomes proved to possess unique properties that set them apart from
all other cellular structures. A property that especially intrigued biologists was that the number of
chromosomes is constant from cell to cell within an organism, from organism to organism within
any one species, and from generation to generation within that species. The question therefore
arose: How is the chromosome number maintained? The question was first answered by observing
under the microscope the orderly behavior of chromosomes during mitosis, the nuclear division
that accompanies simple cell division. These studies showed the way by which chromosome
number is maintained from cell to cell. Similarities between chromosome behavior and that of
genes gave rise to the idea that chromosomes are the structures that contain the genes.

Credit for the chromosome theory of heredity—the concept that genes are parts of chromosomes—
is usually given to Walter Sutton (an American who at the time was a graduate student) and
Theodor Boveri (a German biologist). Working this time with meiosis, in 1902 these investigators
recognized independently that the behavior of Mendel’s hypothetical particles during the
production of gametes in peas precisely parallels the behavior of chromosomes at meiosis.
Consider: genes are in pairs (so are chromosomes); the alleles of a gene segregate equally into
gametes (so do the members of a pair of homologous chromosomes); different genes act
independently (so do different chromosome pairs). Both investigators reached the same
conclusion, which was that the parallel behavior of genes and chromosomes strongly suggests that
genes are located on chromosomes.

It is worth considering some of the objections raised to the Sutton-Boveri theory. For example, at
the time, chromosomes could not be detected in interphase (the stage between cell divisions).
Boveri had to make some very detailed studies of chromosome position before and after interphase
before he could argue persuasively that chromosomes retain their physical integrity through
interphase, even though they are cytologically invisible at that time. It was also pointed out that,
in some organisms, several different pairs of chromosomes look alike,making it impossible to say
from visual observation that they are not all pairing randomly, whereas Mendel’s laws absolutely
require the orderly pairing and segregation of alleles. However, in species in which chromosomes
do differ in size and shape, it was verified that chromosomes come in pairs and that these two
homologous chromosomes physically pair and segregate in meiosis.

In 1913, Elinor Carothers found an unusual chromosomal situation in a certain species of

grasshopper— a situation that permitted a direct test of whether different chromosome pairs do
indeed segregate independently. Studying grasshopper testes, she made use of a highly unusual
situation to make deductions about the usual, an approach that has become standard in genetic
analysis. She found a grasshopper in which one chromosome “pair” had nonidentical members.
Such a pair is called a heteromorphic pair; presumably the chromosomes show only partial
homology. In addition, the same grasshopper had another chromosome, unrelated to the
heteromorphic pair, that had no pairing partner at all. Carothers was able to use these unusual
chromosomes as visible cytological markers of the behavior of chromosomes during meiosis. By
observing many meioses, she could count the number of times that a given member of the
heteromorphic pair migrated to the same pole as the chromosome with no pairing partner She
observed the two patterns of chromosome behavior with equal frequency. Although these unusual
chromosomes are not typical, the results do suggest that nonhomologous chromosomes assort
independently.

Other investigators argued that, because all chromosomes appear as stringy structures, qualitative
differences between them are of no significance. It was suggested that perhaps all chromosomes
were just more or less made of the same stuff.

Fig: Random assortment demonstrated at meiosis. Two equally frequent patterns by which
a heteromorphic pair and an unpaired chromosome move into gametes, as observed by
Carothers.

The Sutton-Boveri theory was attractive, but there was as yet no direct evidence that genes are
located on chromosomes. The argument was based simply on correlation. Further observations,
however, did provide the desired evidence, and they began with the discovery of sex linkage.

CHROMOSOME NUMBER

Different species have highly characteristic numbers of chromosomes. Chromosome number is the
product of two other numbers, the haploid number and the number of sets. The haploid number,
represented as n, is the number of chromosomes in
the basic genomic set. In most fungi and algae, the cells of the visible structures have only one
chromosome set and therefore are called haploid. In most familiar animals and plants, the cells of
the body have two sets of chromosome; such cells are called diploid and represented as 2n. The
range of the haploid number is immense, from two in some flowering plants to many hundreds in
certain ferns.

CHROMOSOME SIZE
The chromosomes of a single genome may differ considerably in size. In the human genome, for
example, there is about a three- to fourfold range in size from chromosome 1 (the biggest) to
chromosome 21 (the smallest).
Chromosome structure, mitosis, meiosis refer to strickberger chapter.