Midparent Value
Offspring Value
Heritability = slope of line 1 2
Fig. 22.5
Three hypothetical regressions of mean parental wing
length on mean offspring wing length in Drosophila
Fig. 22.11 3 4
1
Inheritance of Human Height
- Study adult height variation in a sample size of ∼63,000 individuals
- Use Genome-wide association Non-Mendelian
- Report a total of 54 validated variants influencing this trait (500,000 variants) Inheritance:
Extranuclear Inheritance
- Height is a highly heritable trait and is a ‘model’ trait for
quantitative genetics and developmental biology
- In populations of European descent, the average height is ∼178
cm for males and ∼165 cm for females, with a s.d. of ∼7 cm. Chapter 13 (P386-P390)
Its heritability is ∼0.8.
- The difference between the top 5% and bottom 5% of the
population would be about 26 cm.
5 6
1. Weedon, M.N. et al. Nat. Genet. 40, 575–583 (2008). 2. Lettre, G. et al. Nat. Genet.
40, 584–591 (2008). 3. Gudbjartsson, D.F. et al. Nat. Genet. 40, 609–615 (2008).
DNA genomes of mitochondria and chloroplasts Enzymes:
Pyruvate
dehydrogenase
• Both mitochondria and chloroplasts contain their
own DNA genomes.The DNA in most species’s
mitochondia and in all chloroplasts is circular, ETS/Oxidative
double-stranded, and supercoiled. The Phosphorylation
mitochondrial DNA of some species is linear. enzymes
• The mitochondrial and chloroplast genomes
contain genes for the rRNA components of the Kreb’s cycle
ribosomes of these organelles, for most of the enzymes
tRNAs, for a few proteins that perform functions
specific to the organelles. All other proteins
required by these organelles are nuclear- Fatty acid oxidation
encoded, synthesized on cytoplasmic
enzymes
ribosomes, and transported into them 7 Cutaway diagram of a mitochondrion 8
2
Model for mitochondrial DNA replication that involves
Electron micrograph of mitochondrial DNA (mtDNA). the formation of a D loop structure.
9 10
Human mtDNA:
Translation in mitochondria have similarities to bacteria:
rRNA
tRNAs
fMet-tRNA used in initiation.
Mitochondrial
rRNAs
initiation (IF) factors
elongation (EF) factors
Some polypeptide subunits
release (RF) factors
tRNA
of cytochrome oxidase,
NADH-dehydrogenase, and
Distinct from those in eukaryotic cytoplasm
ATPase.
mt ribosomes – sensitive to the same agents as bacterial
Nuclear DNA ribosomes: streptomycin, neomycin,
chloramphenicol
DNA polymerase & replication proteins,
RNA polymerase & transcription proteins,
Ribosomal proteins, transcription factors, mt ribosomes – insensitive to agents that inactivate
aminoacyl tRNA synthetase, subunits eukaryotic cytoplasmic ribosomes: cycloheximide
cytochrome oxidase, NADH-
mtDNA is 16,569 base pairs in length dehydrogenase, ATPase
These sensitivities are used in research:
Map of the genes of human mitochondrial DNA. The outer circle Proteins derived from nuclear DNA vs. from mtDNA.
shows the genes transcribed from the H (heavy) strand, and the inner
11 12
circle shows the genes transcribed from the L (light) strand.
3
Synthesis of the multisubunit protein cytochrome oxidase takes place
13 14
on both cytoplasmic and mitochondrial ribosomes.
Chloroplasts Site of light
reactions and dark
reactions (Calvin
cycle) of plants
Chloroplasts are cellular organelles found in greeen plants
and are the site of photosynthesis
Photosynthesis includes light reactions and dark reactions (The
Calvin cycle) . In light reactions, chlorophyll is used to convert
light energy into chemical energy, ATP and NADPH. In the dark
reactions, carbon dioxide and water are converted into
carbohydrate using chemical energy in the form of ATP
and NADPH
Cutaway diagram of a chloroplast.
15 16
4
Gene Organization of Chloroplast DNA
Chloroplast ribosomes – same antibiotic inhibition profile as
mitochondria. So chloroplast genes can be studied in the same
way
The chloroplast genome contains genes for chloroplast
rRNA and for the tRNA.
It also contains the genes for some of the proteins required
for transcription and translation of the chloroplast-encoded genes,
such as ribosomal proteins, RNA polymerase subunits, and
translation factors, and for photosynthesis.
155,844 bp for rice
80 - 600 kb (Plants) Most of the proteins found in the chloroplast are encoded
by nuclear genes
17 18
Organizations of the chloroplast genome of rice (Oryza sativa
Rules of Non-Mendelian Inheritance
Extranuclear genes display non-Mendelian inheritance Excellent examples of Non-Mendelian
Four characteristics: Inheritance
1. Typical Mendelian ratios do not occur
2. Reciprocal crosses usually show uni-parental inheritance
Shoot Variegation in the Four O’Clock
All progeny having the phenotype of one parent
The [poky] Mutant of Neurospora
Zygote receives nearly all of its cytoplasm from the
ovum
Yeast petite Mutants
3. Extranuclear genes cannot be mapped to chromosomes in the
nucleus Non-Mendelian Inheritance in Chlamydomonas
4. Substituting nucleus with a different genotype will not affect
non-Mendelian inheritance. 19 20
5
Variegation in the four o’clock, Mirabilis jalapa. (a) Photograph of the
four o’clock. (b) Drawing showing variegation. Shoots that are all Model for the inheritance of shoot color in the four o’clock, Mirabilis jalapa
green, all white, and variegated are found on the same plant, and
flowers can form on any of these shoots. 21 22
Model for the inheritance of
shoot color in the four
o’clock, Mirabilis jalapa.
23 24
6
Shoot color: a pattern of maternal Human Genetic Diseases &
inheritance Mitochondrial DNA Defects
Three assumptions in the model: Leber’s Hereditary Optic Neuropathy (LHON)
1. Pollen contributes no chloroplasts or leucoplasts to the
zygote Kearns-Sayre Syndrome
2. Chloroplast genome replicates autonomously in progeny,
plastids retain the color phenotype of original plastid Myoclonic Epilepsy & Ragged-red Fiber Disease
3. Segregation of plastids during eukaryotic cell division is
random: some offspring cells with chloroplasts, some
with leucoplasts, and some with a mixture.
25 26
