Unit 8a chromosomal inheritance & pedigrees notes

Overview: locating genes on chromosomes

-​ A century ago the relationship btwn genes and chromosomes was unknown
-​ Today we can show that genes are located on chromosomes
-​ The location of a particular gene can be seen by tagging isolated chromosomes with a
fluorescent dye that highlights the gene

Mendelian inheritance has its physical basis in the behavior of chromosomes

-​ Several researchers proposed in the early 1900s that genes are located on
chromosomes
-​ The behavior of chromosomes during meiosis was said to account for mendel’s laws of
segregation and independent assortment
-​ The chromosome theory of inheritance states that:
-​ Mendelian genes have specific loci (positions) on chromosomes
-​ It is the chromosomes that undergo segregation and independent assortment
-​ **overlaps w/ meiosis

← meiosis

Law of segregation:
-​ Anaphase 1 → separation of alleles that
prove this law

Law of independent assortment:

-​ Assortment happens independently

Correlation between unit factors and genes on chromosomes

-​ Unit factors in pairs ~ genes on homologous chromosomes in pairs
-​ Segregation of unit factors during gamete formation ~ genes on homologs segregate
during meiosis (anaphase 1)
-​ Happens second
-​ Independent assortment of segregating unit factors ~ genes on nonhomologous
chromosomes assort independently (metaphase 1)
-​ Happens first
-​ Stronger evidence for the chromosomal theory of heredity came from experiments of TH
Morgan and others with fruit flies from 1909 onwards
Morgan’s experimental evidence - scientific inquiry
-​ The first solid evidence associating a specific gene with a specific chromosome came
from thomas hunt morgan, an embryologist
-​ Basically js break chromosomes and see if its important
-​ Morgan’s experiments with fruit flies provided convincing evidence that chromosomes
are the location of mendel’s heritable factors

Morgan’s choice of experimental organism

-​ Characteristics that make fruit flies a convenient organism for genetic studies:
-​ They breed at a high rate ↴
-​ A generation can be bred every 2 weeks
-​ They have only four pairs of chromosomes (less)
-​ Morgan noted wild type, or normal, phenotypes that were common in the fly populations
-​ Traits alternative to the wild type are called mutant phenotypes

Correlating behavior of a gene’s alleles with behavior of a chromosome pair

-​ In one experiment, morgan mated male flies with white eyes (mutant) with female flies
with red eyes (wild type)
-​ The F1 generation all had red eyes
-​ The F2 generation showed the 3:1 red:white eye ratio, but only males had white
eyes
-​ ∴ red = dominant, white = recessive
-​ No females white eyes in this experiment (possible outside this experiment) bc
he directly copied mendel’s experiment
-​ Morgan determined that the white-eye mutant allele must be located on the X
chromosome
-​ X-linked → carried on the x-chromosome
-​ Y-linked = “holandric”
-​ “Sex-linked” is usually x-linked
-​ Males always express the bad x-linked gene, but females can have a second
normal chromosome → less likely to express the bad gene
-​ Morgan’s finding supported the chromosome theory of inheritance

-​ ♀ = female, ♂ = male
-​ Hemizygous = half alleles, only male - males only have
one X chromosome
-​ The P generation is XRXR x XRY → produces
heterozygous female carriers of the white-eye allele in the F1
generation
Linked genes tend to be inherited together bc they are located near each other on the same
chromosome
-​ Each chromosome has hundreds or thousands of genes
-​ Genes located on the same chromosome that tend to be inherited together are called
linked genes
-​ The entire chromosome usually gets inherited, except when crossing over

How linkage affects inheritance - scientific inquiry

-​ Morgan did other experiments with fruit flies to see how linkage affects inheritance of two
characters
-​ Morgan crossed flies that differed in traits of body color and wing size

-​ Recombinant = didn’t exist in the parents

-​ Vestigial wings = wings but can’t fly

Usually in a heterozygous testcross (AaBb x aabb) you

would get a 1:1:1:1 ratio

← But that isn’t the case here

In the recombinant (nonparental-type) offspring, the

linked genes were separated thru crossing over

↑
-​ From the results, morgan reasoned that body color and wing size are usually inherited
together in specific combinations (parental phenotypes) bc the genes are on the same
chromosome (linked)
-​ However, nonparental phenotypes were also produced
-​ Understanding this result involves exploring genetic recombination - production of
offspring with combinations of traits differing from either parent

Genetic recombination and linkage

-​ The genetic findings of mendel and morgan relate to the chromosomal basis of
recombination

Recombination of unlinked genes - independent assortment of chromosomes

-​ Mendel observed that combinations of traits in some offspring differ from either parent
-​ Offspring with a phenotype matching one of the parental phenotypes are called parental
types
-​ Offspring with nonparental phenotypes (new combinations of traits) are called
recombinant types, or recombinants
 -​ A 50% frequency of recombination is observed for any two genes on different
chromosomes

Recombination of linked genes - crossing over

-​ Morgan discovered that genes can be linked, but the linkage was incomplete, as evident
from recombinant phenotypes
-​ Morgan proposed that some process must sometimes break the physical connection
btwn genes on the same chromosome
-​ That mechanism was the crossing over of homologous chromosomes (prophase 1)

Recombination frequency is (the # of

recombinants) / (total # of flies)

965 (P) + 944 (P) + 206 (R) + 185 (R) =

2300 total flies

# of recombinants = 206+185 = 391

391/2300 = 0.17 → 17%

Linkage mapping - using recombination data - scientific inquiry

-​ Alfred sturtevant, one of morgan’s students, constructed a genetic map, an ordered list
of the genetic loci along a particular chromosome
-​ Sturtevant predicted that the farther apart two genes are, the higher the probability that a
crossover will occur between them, and therefore the higher the recombination
frequency
-​ It’s easier to cut off the end parts than the middle parts basically
-​ A linkage map is a genetic map of a chromosome based on recombination frequencies
-​ Distances between genes can be expressed as map units; one map unit/centimorgan
represents a 1% recombination frequency
-​ In the flies example, the recombination frequency was 17% → distance between
the body color & wing type gene was 17 centimorgans
-​ Map units indicate relative distance and order, not precise location of genes

-​ The 9% + 9.5% = 18.5%

which isn’t equal to 17%
-​ Shows that frequencies/distance are relative
to the pairing and crossing over isn’t standardized
 -​ Sturtevant used recombination frequencies to make linkage maps of fruit fly genes
-​ Using methods like chromosomal banding, geneticists can develop cytogenetic maps of
chromosomes
-​ Cytogenetic maps indicate the positions of genes with respect to chromosomal features
Cytogenetic map ↴

It extends to 104 not 100 bc it’s a relative

difference between individual adjacent genes

U can’t get a linkage if it’s over 50%

The black marks = chromosomal banding

which marks genes

Sex-linked genes exhibit unique patterns of inheritance

-​ In humans and other animals, there is a chromosomal basis of sex determination
-​ Aka sex is based on chromosomes

The chromosomal basis of sex

-​ An organism’s sex is an inherited phenotypic character determined by the presence or
absence of certain chromosomes
-​ In humans and other mammals, there are two varieties of sex chromosomes, X and Y
-​ Other animals have different methods of sex determination

Human​ XX ♀
​ ​ XY ♂

Grasshopper​ XX ♀
​ ​ ​ X♂

Bird​ ZW ♀ disorder patterns in humans are

​ ​ ZZ ♂ reversed in berds

Bee ​ diploid ♀​ ​ haploid ♂

In bees the female is diploid bc the queen bee has lots of eggs and stuff

Inheritance of sex-linked genes

-​ The sex chromosomes have genes for many characters unrelated to sex
-​ A gene located on either sex chromosome is called a sex-linked gene
-​ A gene located on an X chromosome is called an X-linked gene
-​ Sex-linked genes follow specific patterns of inheritance