Presentation on theme: "CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE"— Presentation transcript:
1 CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE 生物醫學暨環境生物學系 張學偉 助理教授Section A: Relating Mendelism to Chromosomes1. Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles2. Morgan traced a gene to a specific chromosome3. Linked genes tend to be inherited together because they are located on the same chromosome4. Independent assortment of chromosomes and crossing over produce genetic recombinants5. Geneticists use recombination data to map a chromosome’s genetic loci
7 3. Linked genes tend to be inherited together because they are located on the same chromosome Results of crosses with linked genes deviate from those expected according to independent assortment.Morgan reasoned that body color and wing shape are usually inherited together because their genes are on the same chromosome.
10 The physical basis of recombination between unlinked genes is the random orientation of homologous chromosomes at metaphase I of meiosis. leads to the independent assortment of alleles.linked genes, genes located on the same chromosome, tend to move together through meiosis and fertilization. [Don’t assort independently]Under normal Mendelian genetic rules, we would not expect linked genes to recombine into assortments of alleles not found in the parents.But in fact, recombination between linked genes does occur. (see Morgan)
20 1. The chromosomal basis of sex varies with the organism CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCESection B: Sex Chromosomes1. The chromosomal basis of sex varies with the organism2. Sex-linked genes have unique patterns of inheritance1. The chromosomal basis of sex varies with the organismIn human and other mammals, there are two varieties of sex chromosomes, X and Y.
26 2. Sex-linked genes have unique patterns of inheritance Although female mammals inherit two X chromosomes, only one X chromosome is active and one X chromosome condenses into a compact object, a Barr body involves the attachment of methyl (CH3) groups to cytosine nucleotides on the X chromosome (inactivates most of its genes). After Barr body formation, all descendent cells have the same inactive X.The condensed Barr body chromosome is reactivated in ovarian cells that produce ova.
27 Barr body occurs randomly and independently in embryonic cells at the time of X inactivation. As a consequence, females consist of a mosaic of cells, some with an active paternal X, others with an active maternal X.FigIf a female human is heterozygous for a sex-linked trait, will have patches of normal skin and skin patches lacking sweat glands.
28 CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE Section C: Errors and Exceptions in Chromosomal Inheritance1. Alterations of chromosome number or structure cause some genetic disorders2. The phenotypic effects of some mammalian genes depend on whether they are inherited from the mother or the father (imprinting)3. Extranuclear genes exhibit a non-Mendelian pattern of inheritance
29 1. Alterations of chromosome number or structure cause some genetic disorders Nondisjunction problems with the meiotic spindleFig Meiotic nondisjunction
30 after nondisjunction cells will have an abnormal chromosome number or aneuploidy. Trisomic = 2n + 1; Monosomic = 2n - 1.Although the frequency of aneuploid zygotes may be quite high in humans, most of these alterations are so disastrous that the embryos are spontaneously aborted long before birth.Organisms with more than two complete sets of chromosomes polypoidy. (nondisjunction) e.g, triploid (3n). tetraploid (4n)e.g., both fishes and amphibians have polyploid species.Polyploidy is relatively common among plants and much less common among animals.Polyploids are more nearly normal in phenotype than aneuploids.
31 Down syndrome: three copies of chromosome 21 aneuploid (nondisjunction) FigThe frequency of Down syndrome correlates with the age of the mother. age-dependent abnormality
32 chronic myelogenous leukemia Breakage of a chromosome can lead to four types of changes in chromosome structure.common in meiosisTypically harmfulchronic myelogenous leukemia(CML).[ch9/ch22]Fig
33 2. The phenotypic effects of some mammalian genes depend on whether they were inherited from the mother or the father (imprinting)For most genes it is a reasonable assumption that a specific allele will have the same effect regardless of whether it was inherited from the mother or father.However, for some traits in mammals, it does depend on which parent passed along the alleles for those traits.The imprinting genes involved are not sex linked and may or may not lie on the X chromosome.
34 . a deletion of a specific segment of chromosome 15 Prader-Willi syndrome abnormal chromosome from father.Angelman syndrome from the mother. same alleles may have different effects on offspring, depending on whether they arrive in the zygote via ovum or sperm. The imprinting status of a given geneIn genomic imprinting process, a gene on one homologous chromosome is silenced, while the other is expressed.cp: barr body is for x chromosome inactivation.
36 (inherited from the mother) In many cases, genomic imprinting occurs when methyl groups are added to cytosine nucleotides on one of the alleles.Fragile X syndrome, which leads to various degrees of mental retardation, also appears to be subject to genomic imprinting.(inherited from the mother)This disorder is named for an abnormal X chromosome with extra CGG repeat.
37 3. Extranuclear genes exhibit a non-Mendelian pattern of inheritance Not all of a eukaryote cell’s genes are located in the nucleus.Extranuclear genes are found on small circles of DNA in mitochondria and chloroplasts.These organelles reproduce themselves.Their cytoplasmic genes do not display Mendelian inheritance.They are not distributed to offspring during meiosis. phenotype of the offspring was determined only by the maternal parent (maternal inheritance).