COWs

Sam and Shaz

Lecture 25
Chromosome features
• One chromatid is made up of one double helix of DNA + proteins
(particularly Histones)
• Homologous chromosomes are the same length while non-homologous
chromosomes of any organism vary in length
• Relative chromosome length and ratio of arm length are measures used to
identify individual chromosomes
• One (or more) chromosome is associated with the nucleolus at the nucleolar
organizing region (NOR)
♦ NOR = a chromosomal region associated with ribosome formation
around which the nucleolus forms

Tolerance to changes in chromosome structure

• Diploid organisms tolerate only small changes in the euploid chromosome set
Addition or removal of one gene can disrupt normal function, in many instances Sex
chromosomes generally are more tolerant to changes
• Polyploids are more tolerant to changes in chromosome structure
• Even-numbered polyploids do better than odd-numbered polyploids because
they have a better chance of producing balanced gametes during meiosis

Three categories of chromosomal structural changes/chromosomal mutations

 Duplications/deletions – small, but cytologically visible
 Duplications are often better than deletions
♦ Deletions are often lethal when homozygous (ex. ‘waltzing’ mice)
♦ Both duplications and deletions result in a loop during synteny in Prophase I of
meiosis
♦ Duplications of genes play a major role in genome evolution
 Single copy of a gene → minimal tolerance for major mutations Duplication
→flexibility for one member of the duplication to mutate to a new function → potential
for more developmental complexity
 Inversions – chromosome rearrangement where a section of a chromosome is
excised, inverted, and reinserted
• Cause loops during synteny (any loci on the same chromosome) in Prophase
I of meiosis
• Two types, relative to the centromere
 Pericentric inversions include the centromere
 Paracentric inversions do not include the centromere
 Translocation – chromosome rearrangememt where a section of chromosome is
excised and inserted into a nonhomologous chromosome
 Occurrence: natural or induced by X-irradiation
 Many translocations are reciprocal translocations (single breaks in
nonhomologous chromosomes)
 Disjunction from translocations in meiosis usually yields few balanced gametes
→ reduced fertility in plants and reduced progeny viability in animals
 Speciation among higher plants and animals often involves inversions and
translocations

Cri du chat in humans is small deletion in Chromosome 5

Inheritance of Complex Traits
 Continuous variation: Trait expression varies continuously rather than discretely
 Usually the result of incomplete dominance, multiple genes (polygenic trait), or
environment
 Multiple genes with incomplete dominance for traits conditioned by one or more
genes with equal effect result in more continuous variation
 Quantitative traits: traits which reflect the incremental measurable effects of
multiple genes or environment
 Continuous variation is a characteristic of quantitative traits
Basic statistics
 Frequency distributions reflect quantitative variation
 Mean or average reflects central tendency of the distribution of a trait
 Mode reflects the most plentiful class
 Variance reflects the scatter or spread of a trait (referred to as V in genetics)
♦ Squared values, so always positive
♦ Variances can be broken down into different sources
♦ Component sources of variation are additive
Standard deviation is the square root of the variance

QuOWs:

1. Ebony body (e) in flies is an autosomal recessive trait. A true-breeding ebony

female (ee) is mated with a true-breeding wild-type male that has been irradiated.
Among the wild-type progeny is a single ebony male. Explain this observation. (Blooms
3-4)
2. White eye color in Drosophila is an X-linked recessive trait. A wild-type male is
irradiated and mated with a white-eyed female. Among the progeny is a white-eyed
female.
a. Why is this result unexpected, and how could you explain it?
b. What type of progeny would you expect if this white-eyed female is crossed
with a normal, non-irradiated male?