MODULE 1: INTRODUCTION TO GENETICS

HISTORY

 Not known when hereditary nature of certain traits first recognized

 But, archaeological evidence (e.g., pictorial representations, preserved bones and skulls, and dried seeds)
documents the successful domestication of animals and the cultivation of plants thousands of years ago by the
artificial selection of genetic variants from wild populations
 Between 8000 and 1000 B.C - horses, camels, oxen, and wolves were domesticated, and selective breeding of
these species soon followed.
 Around 5000 B.C - Cultivation of many plants, including maize, wheat, rice, and the date palm begun
 Such evidence documents our ancestors’ successful attempts to manipulate the genetic composition of species
 During the Golden Age of Greek culture - the writings of the Hippocratic School of Medicine (500– 400 B.C.) and
of the philosopher and naturalist Aristotle (384–322 B.C.) discussed heredity as it relates to humans
 DNA has segments called genes which direct the metabolic activities of cells.
 Chromosomes (array of genes), which serve as vehicles for transmitting genetic information.
 Mitosis and meiosis are two major processes involved in the genetic continuity of nucleated cells
 Mitosis leads to the production of two cells, each with the same number of chromosomes as the parent cell
 Mitosis is that portion of the cell cycle during which the hereditary components are equally partitioned into
daughter cells.
 Meiosis reduces the genetic content and the number of chromosomes by precisely half
 Reduction is essential if sexual reproduction is to occur without doubling the amount of genetic material in each
new generation.
 Meiosis is part of a special type of cell division that leads to the production of sex cells: gametes or spores.
 Essential step in the transmission of genetic information from an organism to its offspring.

Diploid Organisms have Homologous Pairs of Chromosomes

 Chromosomes are most easily visualized during mitosis

 Each chromosome contains a constricted region called the centromere, whose location establishes the general
appearance of each chromosome
 Extending from either side of the centromere are the arms of the chromosome
 Chromosomes are classified depending on the position of centromere as: metacentric, submetacentric,
acrocentric, or telocentric
 The shorter arm is shown above the centromere and is called the p arm (p, for “petite”).
 The longer arm is shown below the centromere and is called the q arm (q because it is the next letter in the
alphabet).

Mitosis

 all somatic cells derived from members of the same species contain an identical number of chromosomes
 represents the diploid number (2n)
 when the lengths and centromere placements of all such chromosomes are examined, a second general feature
is apparent
 With the exception of sex chromosomes, they exist in pairs with regard to these two properties, and the
members of each pair are called homologous chromosomes.
 each chromosome exhibiting a specific length and centromere placement, another exists with identical features
 exceptions to this rule
 Many bacteria and viruses have but one chromosome, and organisms such as yeasts and molds, and certain
plants such as bryophytes (mosses), spend the predominant phase of their life cycle in the haploid stage. That is,
they contain only one member of each homologous pair of chromosomes during most of their lives.
  The haploid number (n) of chromosomes is equal to one-half the diploid number
 the genetic information contained in a haploid set of chromosomes constitutes the genome of the species
 Homologous chromosomes have important genetic similarities
 They contain identical gene sites along their lengths; each site is called a locus (pl. loci)
 they are identical in the traits that they influence and in their genetic potential
 In sexually reproducing organisms, one member of each pair is derived from the maternal parent (through the
ovum) and the other member is derived from the paternal parent (through the sperm)
 each diploid organism contains two copies of each gene as a consequence of inheritance from two parents.
 members of each pair of genes, while influencing the same characteristic or trait, need not be identical
 In a population of members of the same species, many different alternative forms of the same gene, called
alleles, can exist.

Meiosis

 The concepts of haploid and diploid number, and homologous chromosomes are important for understanding
the process of meiosis.
 During the formation of gametes or spores, meiosis converts the diploid number of chromosomes to the haploid
number
 As a result, haploid gametes or spores contain precisely one member of each homologous pair of chromosomes
—that is, one complete haploid set.
 Following fertilization, the diploid number is reestablished.
 one important exception to the concept of homologous pairs of chromosomes
 In many species, one pair, consisting of the sex-determining chromosomes, is often not homologous in size,
centromere placement, arm ratio, or genetic content.

MITOSIS

 protozoans and some fungi and algae, mitosis provides the basis for asexual reproduction.
 Multicellular diploid organisms begin life as single-celled fertilized eggs called zygotes
 The mitotic activity of the zygote and the subsequent daughter cells is the foundation for the development and
growth of the organism
 Adult organisms, mitotic activity is the basis for wound healing and other forms of cell replacement in certain
tissues
 In abnormal situations, somatic cells may lose control of cell division, and form a tumor.
 genetic material is partitioned into daughter cells during nuclear division, or karyokinesis
 The chromosomes must first be exactly replicated and then accurately partitioned
 Karyokinesis is followed by cytoplasmic division, or cytokinesis
 less complex process requires a mechanism that partitions the volume into two parts, then encloses each new
cell in a distinct plasma membrane.
 As the cytoplasm is reconstituted, organelles replicate themselves, arise from existing membrane structures, or
are synthesized de novo (anew) in each cell.

Interphase and the Cell Cycle

 completion of one division until the completion of the next division constitute the cell cycle
 initial stage of the cell cycle, is the interval between divisions
 another critical step occurs during interphase: the replication of the DNA of each chromosome
 This period, during which DNA is synthesized is called the S phase.
 Two periods during interphase when no DNA synthesis also occur
 These are designated G1 (gap I) and G2 (gap II), respectively.
 During both of these intervals, as well as during S, intensive metabolic activity, cell growth, and cell
differentiation are evident
 By the end of G2, the volume of the cell has roughly doubled, DNA has been replicated, and mitosis (M) is
initiated
 Following mitosis, continuously dividing cells then repeat this cycle (G1, S, G2, M) over and over.
