Molecular Basis Of Genetic

Traits

Wrinkled Peas
SS starch grains are large and simple;
contain larger amounts of starch; lower
levels of sucrose; higher water content;
larger size seeds
Seed-shape gene encodes starchbranching enzyme SBEI
Difference between S and s allele not a
single base pair change but a 800-bp
insertion (transposon) in S gene

Dwarfism in Peas
One of the 7 pairs of traits that Mendel studied in
peas as he worked out the basic rules of
inheritance was dwarf-tall.
The recessive gene - today called le - turns out
to encode an enzyme that is defective in
enabling the plant to synthesize GA (gibberelin).
The dominant gene, Le, encodes a functioning
enzyme permitting normal GA (gibberelin)
synthesis and making the "tall" phenotype

Dwarfism in Peas
During the 1930s Japanese scientists isolated a
growth-promoting substance from cultures of a
fungus that parasitizes rice plants. They called it
gibberellin.
After the delay caused by World War II, plant
physiologists in other countries succeeded in
isolating more than 30 closely-related
compounds.
One of the most active of these and one found
as a natural hormone in the plants themselves
is gibberellic acid (GA).

Dwarfism in Peas
GA has a number of effects on plant growth, but
the most dramatic is its effect on stem growth.
When applied in low concentrations to a bush or
"dwarf" bean, the stem begins to grow rapidly.
The length of the internodes becomes so great
that the plant becomes indistinguishable from
climbing or "pole" beans.
GA seems to overcome the genetic limitations in
many dwarf varieties.

Effects of gibberellins on gene

expression
Gibberellins exert their effects by altering
gene transcription

Effects of gibberellins on gene

expression
The steps:
Gibberellin enters the cell and
binds to a soluble receptor protein called GID1 ("gibberellininsensitive dwarf mutant 1") which now can bind to a
complex of proteins (SCF) responsible for attaching ubiquitin to
one or another of several DELLA proteins.
This triggers the destruction of the DELLA proteins by
proteasomes.
DELLA proteins normally bind a gibberellin-dependent
transcription factor, called GA-TRXN, preventing it from binding
to the
DNA of control sequences of genes that are turned on by
gibberellin.
Destruction of the DELLA proteins relieves this inhibition and
gene transcription begins.

Plant Dwarfs
The dwarf varieties of rice and wheat that have
played such an important part in the "green
revolution" carry mutant genes that
interfere with the synthesis of their gibberellins (in the
case of rice) or
for wheat, reduce their ability to respond to their own
gibberellins (because of mutant genes for a DELLA
protein)
Dwarf varieties of sorghum and more recently
maize (corn) also exist, but in these cases, the
mutation interferes with auxin transport, not
gibberellin activity..

DNA Polymerases and Human

Diseases

Human DNA Polymerases

Human DNA Polymerases

DNA polymerases are required for all DNA
synthetic processes.
Thus, mutations in DNA polymerases or
changes in their expression could be
manifested by alterations in DNA
replication, in cell cycle progression and,
most prominently, in mutagenesis.

Human DNA Polymerases

Human DNA Polymerases

Until recently, there were five known mammalian
DNA polymerases: Pol , , , , and . Evidence
suggests that each is essential for viability
Because Pol and Pol are essential, it has been
difficult to determine whether mutations or
alterations in expression are associated with
human diseases. There
is fragmentary evidence that somatic mutations in
Pol are associated with human colon cancers

Human DNA Polymerases

Epigenetic silencing of gene expression is
common in many human tumours and might
affect DNA polymerases.
A survey of DNA polymerase genes on the
University of California, Santa Cruz (UCSC)
Genome Browser, with the CpG-island track
enabled, shows that several human DNA
polymerase genes contain CpG islands, and
thus might be susceptible to methylation and
silencing.

Prader-Willi and snoRNAs

snoRNAs small nucleolar RNAs, noncoding
A paternally derived deletion of the HBII85 cluster of snoRNAs is responsible for
key aspects of the Prader-Willi phenotype
The first disorder found to be associated
with loss of expression of noncoding
snoRNAs

The Genetics of Tomato Shape

The Genetics of Tomato Shape

For tomato (Solanum lycopersicum), cultivated
types bear fruit of varying sizes with many
diverse shapes.
The locus sun comprises a major quantitative
trait locus explaining 58% of the phenotypic
variation in a cross that was derived from the S.
lycopersicum variety Sun1642, which has
elongated shaped fruit, and its wild relative S.
pimpinellifolium, which has round fruit

The Genetics of Tomato Shape

Fine mapping indicates that sun resides in
a region of the tomato genome on the
short arm of chromosome 7 that carries
small-scale insertions, deletions, and
tandem duplications.
One insertion, estimated to be 30 kb, is
present in Sun1642 (but not in LA1589)
and is linked to fruit shape

The Genetics of Tomato Shape

Comparative sequence analysis of the
locus showed that the size difference was
due to the insertion of a 24.7-kb segment
present in Sun1642 but absent from
LA1589
This insertion completely co-assorted with
the phenotype, implying that it underlies
the molecular basis of elongated fruit
shape.

The Genetics of Tomato Shape

A Southern blot showed that LA1589
contained only one copy of this sequence,
whereas Sun1642 contained two copies.
Both accessions shared a copy of this
locus on chromosome 10, suggesting that
the inserted segment on chromosome 7 in
Sun1642 originated from chromosome10

The Genetics of Tomato Shape

A much higher transcript level of IQD12 was
observed in the NIL carrying the Sun1642 allele
in comparison with the NIL carrying the LA1589
allele.
The highest transcript levels of IQD12 were
found in young developing fruit 5 days after
anthesis.
Transcript levels of the disrupted gene DEFL1
showed an inverse expression pattern relative to
IQD12: When IQD12 was expressed, DEFL1
was not (and vice versa)

The Genetics of Tomato Shape

Fruit-shape phenotype was hypothesized to be dosagedependent, because heterozygous sun NIL plants exhibit
an intermediate fruit shape relative to that of the parents
in both the LA1589 and Sun1642 backgrounds.
Northern blots demonstrated that IQD12 was expressed
about twofold higher in individuals homozygous for the
transposed fragment than in heterozygous plants.
Similarly, DEFL1 was expressed about twofold higher in
homozygous individuals lacking the transposed fragment
than in heterozygotes