aa black cc white C A agouti C aa black Inheritance of blood groups A B A B A B A B Possible childs blood type Possible fathers blood type ID: 789012
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Slide1
Recessive epistasis
A
– agouti
aa black
cc – – white
C– A – agouti
C– aa black
Slide2Inheritance of blood groups
(A-)
(B-)
(A-)
(B-)
(A-)
(B-)
(A-)
(B-)
Possible child’s blood type
Possible father’s blood type
Slide3Inheritance of blood groups:
Bombay phenotype
?
Slide4ABO blood groups
Karl
Landsteiner
(1
868-1
9
43
)
H-
IA-
IB-
ii
Slide5Inheritance of blood groups:
Bombay phenotype
Slide6Dominant epistasis
Y– yellow
yy green
W – – – white
ww Y– yellow
ww yy green
Inheritance of pumpkin colour
Slide7Complementarity (1)
Inheritance of pumpkin shape
Slide8Complementarity (2)
Single Walnut Pea Rose
aabb A–B– aaB– A–bb
Inheritance combs types in fowl
Slide9Complementarity (2)
Elaphe guttata
[corn snake]
O– - orange pigment
B– - black pigment
OOBB
ooBB
OObb
oobb
Slide10Additive polymery
a
1
a
2
A
3
Inheritance of grain colour of wheat
Slide11Additive polymery
+++
+++
+++
++-
+++
+- -
+++
- - -
++-
- - -
+ - -- - -
- - -- - -- - -
- - -+++
++++++- - -
1 6 15 20 15 6 1
Slide12Additive polymery
Inheritance of human height
H
1
H
1 H2
H2 very shortH1 H1 H2 h2 shortH1
H1 h2 h2 midH1 h1 h2 h2
tall h1 h1h2 h2 very tall
Sultan Kösen (Turkey)
251 cm (2011)
Slide13No
nadditive polymery
Capsella bursa-pastoris
Slide14Some properties of gene action
Pleiotropya single gene can affect several traitsPenetrancefrequency of the gene expression
Slide15Properties of gene action
Penetrance
–
frequency of the gene expression
Incomplete penetrance in a case of polydactyly
Slide16Properties of gene action
Expressivity
–
degree of the expression of the trait
Different expressivity in a case of polydactyly
Slide17Properties of gene action
Expressivity
–
degree of the expression of the trait
Different expressivity in a case of polydactyly
Slide18Properties of gene action
Expressivity
–
degree of the expression of the trait
Different expressivity in a case of polydactyly
Slide19Phenocopies
Alterations in a trait expression caused by environment, which are phenotypically identical to mutation expression
Slide20Sex related inheritance
chromosomalcytoplasmic heredity different inheritance of genes (traits) depending of the sex
Slide21Sex related inheritance
Different expression of autosomal genes in individuals with differentsex limited traitsmilk productionegg productionbreast cancer
sex depending traits
baldness
horn development
Slide22Sex related inheritance
Baldness in human Dominant allele B – bald
Women
Man
bb norm. norm. Bb norm. bald BB
bald bald
John Gurdon, 2012
Hermann J. Muller, 1946
James Watson, 1962
Slide23Human chromosomes
Slide24Sex determination
homogametic sex (XX)heterogametic sexXYX0
Slide25Heterogametic sex
male (X, Y)mammalsfishes (part)amphibians (part)reptiles (part)
insects (biggest part)
female
(Z, W)
birdsfishes (part)amphibians (part)
reptiles (part)butterflies(XX) (ZZ)
Slide26Sex chromosomes and sex
XX XY Human female male Drosophila female male
XXY XO
Human male female Drosophila female male
Slide27Influence of
sex choromosomes/autsomes ratioon the sex of Drosophila melanogaster
X Chromosomes
Autosomes
Ratio of X:A
Sex
XXXXAAAA1Normal FemaleXXXAAA1Normal FemaleXXAA1Normal Female
XAA0.50Normal MaleXXXAA1.50MetafemaleXXXXAAA1.33MetafemaleXX
AAA0.66IntersexXAAA0.33Metamale
Slide28Sex chromosomes in human
Klinefelter
syndrome
XXY, XXYY, XXXY, XXXYY, XXXXY
Turner
syndrome
X0Triple X syndrome"super-females", "metafemales"XXX, XXXX, XXXXX
XYY
syndrome (Jacobs sindrome)"super-male" XYY, XYYY, XYYYY
Slide29Sex determination in fishes
Volff et al., Sex Dev., 2007, 1, 85-99
Slide30Percentage of males depending of water temperature
(different fish species)
Ospina
-Alvarez &
Piferrer_
PLoSONE
, 2008,
3(7)
Slide31Human X and Y chromosomes
Lyonization
(Mary Lyon)
Barr
bodies
(
Murray L. Barr)
Slide32Human Y chromosome
PAR
– pseudoautsomal regions
MSY
– male specific region of the Y chromosome
SRY
– sex determination region on the Y chromosome
Slide33Sex chromosomes ofDrosophila melanogaster
Hallacli & Akhtar
,
Chromosome Research
,
2009
, 17,
603–619
Adams et al., 2000, Science, 287, 2185–2195
Slide34Recessive allele in X chromosome
Slide35Inheritance of hemophilia
Slide36Inheritance of albinism
Slide37Hemophilia in European royal families
Slide38Dominant allele in X chromosome
Trait can appear in both sexes but its frequency in female is double in comparison with male.
In case of disease severity for men is usually higher than in women.
Slide39Dominant allele in X chromosome
(lethal in the hemizygotic condition)
Incontinentia
pigmenti
Slide40Gene in Y chromosome
Slide41Maternal inheritance
(maternal effects) Maternal effects – inheritance only from mother:direct cross A x Breciprocal cross
B x A
Maternal effect:
FA x B
FB x AFA, FB FA x B = FA; FB x A = FB
Slide42Maternal inheritance
Pseudo cytoplasmatic inheritance Cytoplasmatic predetermination phenotypes are controlled by nuclear factors found in the cytoplasm of the female Cytoplasmatic inheritance
phenotypes are controlled by genes localised it cytoplasmatic organelles (mitochondria or chloroplasts)
Slide43Cytoplasmatic
predetermination(coiling direction of
snail
shells
Lymnea
sp.)
Slide44Mitochondrial genome
In the each cell 2-100 mitochondriaIn the each mitochondria 5-10 circular DNA molecules (“chromosomes")
Slide45Human mitochondrial DNA
22 tRNA genes
2 rRNA genes
13 protein coding genes
Slide46Mitochondrial genome
mutation frequency in mtDNS is about 20 times as much than in nuclear DNAmitochondria are segregating among daughter cells independently from nuclear chromosomes replicative segregation
Slide47Mitochondrial genome
percent of mitochondria with particular mutation can be different in different somatic cells and in different tissuesheteroplazmyphenotypically variable manifestationage depending manifestation
interaction with nuclear genes
Slide48Mitochondrial disorders
tissues (organs) depending from the function of mitochondriaheartskeleton musclescentral nervous systemtypical disorders:myopathy
encephalopathy
Slide49Mitochondrial disorders
Slide50Pedigree in case of mitochondrial inheritance
Slide51Mitochondrial encephalopathy