Chapter 5

Ligamiento y mapas en eucariotas

Genetic Linkage and

Mapping
Thomas Hunt Morgan won the Nobel
Prize for work establishing the
chromosome theory of inheritance
and also for his role identifying and
explaining genetic linkage and
recombination
He applied linkage and
recombination to genetic mapping,
also

Ligamient
o vs.
sorteo
independi
ente
Sorteo
independiente: la
segregacin de
un locus no
influye en la
segregacin de
un segundo locus

Ligamient
o vs.
sorteo
independi
ente
Ligamiento: dos locus
en el mismo
cromosoma
Si es total los genes
estan BIEN cerca y
SIEMPRE segregan
juntos

Ligamient
o vs.
sorteo
independi
ente
Ligamiento incompleto:
puede haber
recombinacion entre
los dos genes ligados
Los gametos pueden
ser parentales o
recombinantes

Configuracin/arreglo original de los

alelos en los parentales AB y ab (cis)
Configuracin/arreglo en los gametos
recombinantes Ab y aB (trans)

Cruce de
prueba para
analizar
ligamiento

o Mapas genticos permiten estimar la distancia relativa entre

los genes ligados basado en la probabilidad de que ocurra
entre cruzamiento entre ellos
o Experimentalmente, el porciento de progenie recombinante
se correlaciona con la distancia entre dos genes
Si los genes estn lejos mas progenie recombinante
Si los genes estn cerca menos progenie recombinante
Numero de progenie recombinante X 100
Map distance =
Numero total de progenie

Unidades de distancia:
map units (mu)
centiMorgans (cM)

B=black
C=full color

b=brown
c=chinchilla

Se cruzan cepas puras

Black, Full color
X
Brown, chinchilla
Luego se hace cruce de
prueba con F1 y se
obtiene:
31 brown,chinchilla
34 black, full
16 brown, full
19 black, chinchilla

Se sabe si los
genes estan
ligados?
Si estan ligados,
hay
recombinacion?
Si hay
recombinacion,
cual es la
frecuencia?

En maz las siguientes dos caractersticas estn ligadas

Aleurona coloreada=R
Aleurona incolora=r
Planta verde=P
Planta amarilla=p
Se hacen cruces de prueba entre individuos heterocigticos con
aleurona coloreada y planta verde
cules son los posibles gametos del individuo heterocigtico?

Coloreados verde
Coloreados amarilla
Incoloros verde
Incoloros amarilla

88
12
8
92

Basado en la progenie haz el mapa de estos genes en el padre heterocigtico.

encias fsicas de recombinacin

Harriet Creighton y Barbara McClintock

*correlation of the
occurrence of
recombinant
offspring with
microscopically
observable
exchanges in
segments of
homologous
chromosomes

Important Conclusions from All of Morgans

Crosses

1. Genetic linkage is a physical relationship

between genes located near one another on a
chromosome
2. Recombination occurs between linked genes
less than 50% of the time, and greater than
50% of the gametes contain parental allele
combinations
3. Recombination frequency varies among linked
genes in proportion to the distance between
them

13

The First Genetic Linkage

Map
Morgan was the first to demonstrate
that genes are on chromosomes
His student, Alfred Sturtevant, realized
that the variations in recombination
frequency could be used to determine
genetic maps for genes
By convention, 1% recombination 1
m.u. or 1 cM
14

Three-Point Test-Cross Analysis Maps Genes

By performing three-point test-cross analysis,

geneticists can efficiently map three linked genes
simultaneously
In a cross between a trihybrid individual and one
homozygous recessive for all three genes, the
gene configuration need not be known in advance
Incomplete linkage produces eight different
gamete genotypes, with unequal frequencies if
the genes are linked
Parental types will be observed most frequently,
the recombinant types less frequently
15

Parental gametes are produced when there is no crossing over between

the genes: a b c and a b c
16

A single crossover between a and b produces: a b c and a b c

A single crossover between b and c produces:

a b c and a b c

A double crossover (in both intervals) produces:

a b c and a b c

Example: a b c / a b c a b c / a b c
(Test Cross 2)

Parental gametes are produced when there is no

crossing over between the genes: a b c and a b
c
A single crossover between a and b produces:
a b c and a b c
A single crossover between b and c produces: a
b c and a b c
A double crossover (in both intervals) produces:
a b c and a b c
20

21

 Each of the six recombinant gamete classes are produced at

frequencies significantly lower than that predicted by chance
Within each crossover class (e.g., single crossover between genes a and
b) both gamete types that result are equally frequent
Double crossover classes are the least frequent because both crossover
events must occur to produce these

Three-Point Recombination Map

Dominante

Recesivo

planta

Verde (V)

Amarilla (v)

hoja

Porosa (Gl)

Brillosa (gl)

fertilida Normal
d
(Va)

Variable
(va)

24

Analysis of Data Five

Questions

1. Are the data consistent with the proposal of

genetic linkage?
2. What are the alleles on the parental
chromosomes?
3. What is the gene order on the chromosome?
4. What are the recombination frequencies of
the gene pairs?
5. Is the frequency of the double crossovers
consistent with independence of the single
crossovers?
. Each of these questions is answered in
analyzing the three-point test-cross data 25

Determining the Gene Order on the Chromosome

Result: double-crossover gametes from this

order are not those predicted from the data

Result: double-crossover gametes from this

order are not those predicted from the data
26

The Correct Gene Order on the

Chromosome

Result: double-crossover gametes from this

order are those predicted from the data
Conclusion: this predicted gene order is the
correct one
27

What Are the Recombination Frequencies of the

Gene Pairs?

Count the number of crossovers that

occurred between the two members of
each gene pair, including the double
crossover classes
For V-Gl the frequency
60 62 4 7/726 0.183 or 18.3 cM

For Gl-Va the frequency

48 40 4 7/726 0.136 or 13.6 cM

28

Is the Frequency of Double Crossovers Consistent

with Independence of the Single Crossovers?
In most experiments the number of observed double
crossovers is less than expected
This is caused by an effect called interference (I)
In Emersons data, the expected double crossovers are
(0.183)(0.136) 726 18.2
Observed double crossovers/Expected double crossovers
the coefficient of coincidence, c.
I 1 c, or 0.40
Interference identifies the double crossovers expected
but not produced
In cases where I 0, negative interference has
produced more double crossovers than predicted
29

Biological Factors Affecting Accuracy of Genetic

Maps

Age, environment, and sex may affect recombination

frequency
In female fruit flies
increased age decreases recombination frequency
Fruit flies grown at temperatures above or below the
optimal 22C experience changes in recombination
frequency

In male fruit flies, there is no crossing over at all

Recombination rates differ between males and
females for most animals
The heterogametic sex generally has a lower
recombination rate than the homogametic sex
The differences in recombination rate are genome-wide,
30
i.e., not confined to the sex chromosomes

The relationship between

recombination frequency and map
distance can be used to predict
frequencies of recombinant gametes
based on map distances

31