CH 09

Part 2: Genetics and molecular biology
Chapter 9: Inheritance
Copyright 2010 McGraw-Hill Australia Pty Ltd PowerPoint slides to accompany Biology: An Australian focus 4e by Knox, Ladiges, Evans and Saint Slides prepared by Karen Burke da Silva, Flinders University
9-1
Inheritance of a single gene

Blending inheritance was the popular theory in the late 1800s as nothing was known of the molecular nature of genes
9-2
Gregor Mendel
Mendel studied pure-breeding lines of pea plants, in which all progeny are the same as the parent plants His question was: If the traits of the two parents differ, what do the offspring look like?
9-3
Monohybrid cross
Mendel studied seven traits of pea plants, each of which had two alternative forms (see Fig. 9.2) Traits could be studied one at a time When pure-breeding lines with each trait were crossed, only one form was present in the offspring The offspring are called the F1 (first filial) generation The F1 form was always the same, regardless of the strain source of pollen or egg
9-4
Fig. 9.2 (top): Seven traits of garden peas studied by Mendel
9-5
Fig. 9.2 (bottom): Seven traits of garden peas studied by Mendel
9-6
Monohybrid cross (cont.)

Plants with yellow seeds crossed with greenseeded plants always had progeny producing yellow seeds To determine the fate of the green trait, the yellow F1 plants were crossed together to produce an F2 generation In this generation the green trait reappeared in a proportion of the plants, having been masked in the F1
9-7
Fig. 9.3: The results of Mendels first type of experiment
9-8
Mendels conclusions
Each genetic trait must be determined by two factorsthese factors are now known as genes The two copies of each gene may differ from one anothercopies are known as alleles Where alleles are the same, the organism is homozygous for that gene Where alleles are different, the organism is heterozygous for that gene
9-9
Mendels conclusions (cont.)

Alleles do not blend, but remain as discrete units of inheritance Where alleles for a single gene are different, only one is expressed in the phenotype This allele is said to be dominant over the nonexpressed recessive allele Because the alleles do not blend, the recessive allele becomes visible in the F2 generation
9-10

When a trait is produced by a single gene having two alleles, and one allele is dominant
the ratio between the dominant and recessive phenotypes will be 3:1 in the F2 generation the ratio of genotypes in the F2 generation is 1:2:1 for the homozygous dominant, heterozygote and homozygous recessive respectively this ratio was consistent for all the pairs of traits Mendel studied
9-11

Principle of segregation Individuals carry pairs of genes, termed alleles, that influence particular inherited traits. The alleles segregate during gamete formation such that any individual gamete contains only one of each pair of alleles
9-12
Fig. 9.4: Mendels breeding program following the inheritance of seed colour in peas over two generations
9-13
Dihybrid cross
Mendel also crossed together pure-breeding strains differing in two unrelated traits e.g. seed colour and shape In each case the F1 generation showed the dominant phenotype of each allele pair: yellow and round In the F2 generation the following occurred
new combinations of traits not present in the parents the ratios of different phenotypes were specific and consistent
9-14
Fig. 9.6: Mendels breeding program following the inheritance of both seed colour and seed shape in peas simultaneously
9-15
Dihybrid cross (cont.)

Independent assortment is shown in the F2 generation by the presence of every combination of alleles in equal numbers There are only four different phenotypes possible The ratio between double dominant homozygote: heterozygote (gene 1): heterozygote (gene 2): double recessive homozygote is 9:3:3:1
9-16
Principle of independent assortment

Alleles of a gene controlling one trait assort into gametes independently of alleles of another gene controlling a different trait Independent assortment of genes is possible when the two genes considered are located on different chromosomes The F2 generation phenotype ratio of 9:3:3:1 requires independent assortment
9-17
Multiple effects of single genes

Often a single gene affects more than one trait The gene allele producing purple pigment in flowers also produces colour in other parts of the plant, such as stems A coat-colour allele in mammals causes not only yellow fur but abnormal cartilage development This phenomenon is called pleiotropy, where more than one trait is influenced by a single gene
9-18
Codominance and blood groups

Mendels analysis required two alleles for each gene and one to be dominant in the phenotype Many genes have more than two alleles in a population Some alleles are coexpressed in the phenotype rather than being dominant or recessive The ABO blood group system illustrates these points
9-19
Table 9.2: Characteristics of the human ABO blood group system
9-20
Codominance and blood groups (cont.)

The ABO proteins are antigens on the surface of red blood cells A single gene has three alleles, IA, IB and i, of which each individual has only two Allele IA produces antigen A, IB produces antigen B and i has no product (or no antigens)called group O when homozygous
9-21
Codominance and blood groups

A and B antigens are separate molecules; when both are present the blood group is AB since they are codominant Either A or B, when present with allele i, will determine the blood group, so each is dominant over O
9-22
Question 1:
Jill and Tom are concerned because they have blood types A and B respectively, but their new daughter, Amanda, has blood type O. Does this mean that Jill or Tom might not be Amandas parents? a) Only Jill can be Amandas Mother b) Only Tom can be Amandas Father c) Neither Jill nor Tom can be Amandas parents d) Both Tom and Jill can be Amandas parents
9-23
Backcrosses and testcrosses

A backcross is a cross between the heterozygous F1 progeny and either homozygous parent A cross with the homozygous recessive organism is called a testcross Since only the dominant alleles are visible in the heterozygote, the genotype cannot be distinguished from homozygous dominant for those alleles A testcross reveals the presence of recessive alleles in the heterozygote
9-24
Mendelian inheritance in humans

Many human traits are inherited by Mendelian principles Of particular interest in human genetics are disease-causing alleles The inheritance of traits in families is followed using pedigrees, where people are assigned symbols depending on their genotype and phenotype for a particular trait
9-25
Fig. 9.7a: Pattern of inheritance of a genetic disease: cystic fibrosis
9-26
Fig. 9.7b: Pattern of inheritance of a genetic disease: Huntington disease
9-27
Patterns of disease inheritance

Defined by the pattern of expression of the disease-causing allele of the gene relative to the normal one Based on the expression of the disease gene in the phenotype Also determined by the location of the disease gene on an autosome or sex chromosome (predominantly X)
9-28
Sex determination and linkage

In many species, from insects such as Drosophila melanogaster through to humans, sex is determined by chromosomes These are called sex chromosomes In each case, one sex will have two sex chromosomes of the same type (homogametic) and the other will have two different sex chromosomes (heterogametic)
9-29
Fig. 9.8: Pattern of inheritance of sex chromosomes in humans
9-30
Sex determination and linkage

In humans and Drosophila melanogaster, females have two X chromosomes but males only have one X and a Y Males cannot be homozygous or heterozygous for the alleles on the Xrather they are said be hemizygous For sex-linked inheritance the sex of the offspring matters
males inherit their X chromosome only from their mother females inherit X chromosomes from both parents
9-31
Fig. 9.9: Sex linkage and chromosome inheritance in Drosophila melanogaster
9-32
X-linked traits in humans

Fig. 9.10a: A pedigree showing inheritance of colour-blindness
9-33
X-linked traits in humans (cont.)

Fig. 9.10b: A test plate used for detecting colourblindness
9-34
Question 2:
Redgreen colour-blindness is an X-linked recessive disorder. What is the probability that a female child who has a colour-blind father, and a normal sighted mother (whose father was colourblind), would also be colour-blind? a) b) c) d) 0
9-35
Linkage on autosomes
When genes are located on the same chromosome, they are obliged to travel together during meiosisthis is called linkage During prophase 1 of meiosis, chromatids of homologous chromosomes exchange information These crossing-over events are called chiasmata Since the homologous chromosomes will be heterozygous for some genes, alleles will be recombined
9-36
Recombination
To test for independent assortment a testcross is done between a double heterozygote and the double recessive homozygote If the genes are assorting independently, the four possible phenotypes should be present in the ratio 1:1:1:1 Any deviation from that ratio in the progeny indicates that the genes are not assorting independently and may be linked
9-37
Fig. 9.11a: The wild-type Australian sheep blowfly, Lucilia cuprina
9-38
Fig. 9.11b: A mutant white (w) fly
9-39
Fig. 9.11c: Bristles on a mutant crooked bristles fly
9-40
Fig. 9.11d: Genotypes
9-41
Recombination (cont.)
The allele combination present on the original chromosomes is called the parental genotype New combinations generated by chiasmata are called recombinant genotypes The presence in the progeny of recombinant allele combinations indicates that genes concerned are linked (i.e. on the same chromosome)
9-42
Linkage and recombination

The number of the progeny that have recombinant genotypes is proportional to the distance between the genes Analysis of allele recombination is the basis for genetic mapping Genes are located relative to one another by a series of crosses and measurement of recombination frequencies between the loci
9-43
Linkage and recombination (cont.)

The distances are nominal, rather than actual physical units of distance The unit is the centimorgan (cM): the number of recombinant progeny/total progeny x 100 Relative positions of genes have been extensively mapped by this process
9-44
Fig. 9.12a: Chromosome 1 of Drosophila melanogaster
9-45
Fig. 9.12b: Human chromosome 1
9-46
More variations
Incomplete dominance
where expression of both alleles leads to an intermediate phenotype, such as in snapdragon flower colour
Gene interactions
recombined alleles of different genes may interact to produce new phenotypes
9-47
Fig. 9.13: Eye colour phenotypes of (a) wild-type, and two mutants (b) brown and (c) scarlet of Drosophila melanogaster. (d) A different eye colour phenotype, white.
(a)
(c)
(b)
(d)
9-48
More variations (cont.)

Gene expression may be conditional, requiring certain environmental conditions to become visible
an example is the c coat colour allele in Siamese cats, where the allele is only active at low temperatures
9-49
More variations (cont.)

Not all genes are fully expressed in an individual (expressivity) or in a population (penetrance) Polygenic traitsinfluenced by the combined expression of a number of genes e.g. height and skin colour in humans
9-50
Epigenetic regulation
X chromosome inactivation
in eutherian mammal females, one X chromosome is inactivated randomly in each cell to equalise the expression of genes in both sexes
9-51
Epigenetic regulation (cont.)

Imprinting
the parental origin of some chromosomes determines the expression pattern of the genes in marsupials the paternal X chromosome is always inactivated an allele on human chromosome 15 can cause different diseases depending on the parental origin (see Box 9.2 in the textbook)
9-52
Summary
Genotype is the genetic constitution of an organism Phenotype is an organisms observable traits, which depend on both genotype and environment Generally, individuals carry two alleles for each gene, which separate (segregate) into gametes Independent assortment: the segregation of alleles of one gene into gametes has no influence on the segregation of the alleles of another gene Phenotypes may be dominant, codominant or recessive
9-53
Summary (cont.)
Absence of independent assortment indicates gene linkage through location on same chromosome Linked genes can be separated if crossing over occurs, resulting in recombination. The frequency of recombination is related to the distance between the two loci Polygenetic traits: many genes, one trait Epigenetic regulation: activity of some genes can be modified
9-54

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Part 2: Genetics and molecular biology

Inheritance of a single gene

Fig. 9.2 (top): Seven traits of garden peas studied by Mendel

Fig. 9.2 (bottom): Seven traits of garden peas studied by Mendel

Monohybrid cross (cont.)

Fig. 9.3: The results of Mendels first type of experiment

Mendels conclusions (cont.)

Mendels conclusions (cont.)

Mendels conclusions (cont.)

Dihybrid cross (cont.)

Principle of independent assortment

Multiple effects of single genes

Codominance and blood groups

Table 9.2: Characteristics of the human ABO blood group system

Codominance and blood groups (cont.)

Codominance and blood groups

Backcrosses and testcrosses

Mendelian inheritance in humans

Fig. 9.7a: Pattern of inheritance of a genetic disease: cystic fibrosis

Fig. 9.7b: Pattern of inheritance of a genetic disease: Huntington disease

Patterns of disease inheritance

Sex determination and linkage

Fig. 9.8: Pattern of inheritance of sex chromosomes in humans

Sex determination and linkage

Fig. 9.9: Sex linkage and chromosome inheritance in Drosophila melanogaster

X-linked traits in humans

X-linked traits in humans (cont.)

Fig. 9.11a: The wild-type Australian sheep blowfly, Lucilia cuprina

Fig. 9.11b: A mutant white (w) fly

Fig. 9.11c: Bristles on a mutant crooked bristles fly

Fig. 9.11d: Genotypes

Linkage and recombination

Linkage and recombination (cont.)

Fig. 9.12a: Chromosome 1 of Drosophila melanogaster

Fig. 9.12b: Human chromosome 1

More variations (cont.)

More variations (cont.)

Epigenetic regulation (cont.)

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