The Chromosomal Basis of Inheritance

Chapter 15 → The Chromosomal Basis of Inheritance Student Guided Notes Overview: Locating Genes Along Chromosomes • Around 1902, Walter Sutton, Theodor Boveri, and others developed a _______________________ ______________________________________________. o Genes occupy specific loci on chromosomes. o Chromosomes undergo segregation and independent assortment during meiosis. o The behavior of homologous chromosomes during meiosis can account for __________________ _______________________________________________________________________________ _______________________________________________________________________________. o The behavior of nonhomologous chromosomes can account for the _________________________ _________________________ of alleles for two or more genes located on different chromosomes. Concept 15.1 Morgan showed that Mendelian inheritance has its physical basis in the behavior of chromosomes: Scientific Inquiry • In the early 20th century, Thomas Hunt Morgan was the first geneticist to associate ______________ ___________________________________________________________________________________. • Morgan worked with _____________________________________________, a fruit fly. o Fruit flies are prolific breeders and have a generation time of ___________________________. o Fruit flies have ________ pairs of autosomes and a pair of sex chromosomes (______ in females, ________ in males). • The most commonly observed character phenotype is called the _______________ (example: red eyes.) • Traits that are alternatives to the wild type, are called _______________________________________ (example: white eyes.) • Morgan crossed his _____________-eyed male with a _______________-eyed female, and all the F1 offspring had red eyes, suggesting that the red allele was dominant to the white allele. • Crosses between the F1 offspring produced the white eyes ONLY in half of the F2 MALE offspring. • Morgan concluded that a fly’s eye color was _______________________________________________. Concept 15.2 Sex-linked genes exhibit unique patterns of inheritance • In humans and other mammals, there are two varieties of sex chromosomes, X and Y. o An individual who inherits two X chromosomes usually develops as a ____________________. 15-1 o An individual who inherits an X and a Y chromosome usually develops as a __________________. • Each conception has about a __________________________ chance of producing a particular sex. • Other animals have different methods of sex determination. o The ___________ system is found in some insects. Females are ________ and males are ______. o In birds, some fishes, and some insects, females are _________ and males are __________. o There is also a Haplo-Diplo system in bees and ants. Females develop from fertilized eggs (so they are diploid) and males develop from unfertilized eggs (they are haploid). The SRY gene is on the Y chromosome. • In 1990, a British research team identified a gene on the Y chromosome required for the development of testes. o They named the gene SRY (________________________________________________________). • In individuals with the SRY gene, the generic embryonic gonads develop into ____________________. • In individuals lacking the SRY gene, the generic embryonic gonads develop into __________________. A gene located on either sex chromosome is called a sex-linked gene. • The human X chromosome contains approximately 1,100 _____________________________________. o Because males and females inherit a different number of X chromosomes, the pattern of inheritance of X-linked genes differs from that of genes located on autosomes. • Human X-linked genes follow this pattern of inheritance: o Fathers pass X-linked alleles to ________________________________________________________. o Mothers can pass X-linked alleles to ____________________________________________________. • If an X-linked trait is due to a recessive allele, a female will express the phenotype only if she is ____________________________________________________________________________________. o Heterozygous females are ____________________________ for the recessive trait. • Color blindness (red-green vision) is a mild disorder almost always inherited as an X-linked trait. • Duchenne muscular dystrophy affects one in 3,500 males born in the United States. o The disease is characterized by _______________________________________________________ _______________________________________. Affected individuals rarely live past their early 20s. • Hemophilia is an X-linked recessive disorder defined by ______________________________________ _____________________________________________________________________________________. 15-2 o These proteins normally slow and then stop bleeding. o People with hemophilia can be treated with intravenous injections of the missing protein. Although female mammals inherit two X chromosomes, only one X chromosome is active. • Males and females have the same effective dose (one copy) of genes on the X chromosome. • During female development, one X chromosome per cell condenses into a compact _______________. o Most of the genes on the Barr-body X chromosome are ________________________________. o The condensed Barr-body chromosome is _____________________________ in ovarian cells that produce ____________________. • Selection of which X chromosome forms the Barr body occurs ____________________________ and __________________________________ in each embryonic cells present at the time of X inactivation. o As a consequence, females consist of a ________________________________________________, some with an active paternal X chromosome and others with an active maternal X chromosome. o If a female is __________________________________ for a sex-linked trait, approximately half her cells will express one allele, and the other half will express the alternate allele. • Similarly, the orange-and-black pattern on tortoiseshell cats is due to patches of cells expressing an orange allele while other patches have a non-orange allele. • X inactivation involves modification of the DNA and the histone proteins bound to it by attachment of __________________________________________ to one of the _____________________________ ___________________________________________. Concept 15.3 Linked genes tend to be inherited together because they are located near each other on the same chromosome • Genes located near each other on the same chromosome tend to be ______________________________. o • These genes are called _____________________________________. The results of crosses with linked genes differ from those expected according to the law of independent assortment. __________________________________ of chromosomes produces genetic recombination of unlinked genes. • Mendel’s dihybrid cross experiments produced offspring that had a combination of traits that did not match either parent in the P generation. o If the P generation consists of a yellow-round seed parent (YYRR) crossed with a green-wrinkled seed parent (yyrr), all the F1 plants have yellow-round seeds (YyRr). 15-3 • A cross between an F1 plant and a homozygous recessive plant (a ________________________) produces four phenotypes. o Half are the parental types, with phenotypes that match the original P parents, with either ________ _________________________________or _____________________________________________. o Half are recombinant types or recombinants, __________________________________________ _____________________________________________ with yellow-wrinkled or green-round seeds. • A 50% frequency of recombination is observed for any two genes located on _____________________ ___________________________________________________________________________________. ________________________________________ produces genetic recombination of linked genes. • Most of the offspring from the Drosophila testcross in Morgan’s experiment for body color and wing size had parental phenotypes. o That suggested that the two genes (body color and wing size) were on the _____________________ chromosome, since the occurrence of parental types with a frequency greater than ________% indicates that the genes are linked. o About 17% of offspring, however, were recombinants. • Morgan proposed that some mechanism must occasionally break the physical connection between genes on the same chromosome. o This process, called crossing over, accounts for the ________________________________________. New combinations of alleles provide variation for natural selection. • Recombinant chromosomes resulting from crossing over bring alleles together in new combinations. o ________________________________ increases further the number of variant allele combinations. Geneticists can use recombination data to map a chromosome’s genetic loci. • ______________________________________________ used the crossing over of linked genes to develop a method for constructing a genetic map, an _______________________________________ ____________________________________________________________________________________. • Sturtevant predicted that ________________________________________________________________ ____________________________________________________________________________________ ___________________________________________________________________________________. • A genetic map based on recombination frequencies is called a _________________________. • Sturtevant expressed the distance between genes as map units. 15-4 o One map unit is equivalent to _________________________________________________________. • Some genes on a chromosome are so far apart that a crossover between them is virtually certain. o In this case, the frequency of recombination reaches its maximum value of 50% and the genes behave as if _____________________________________________________________________. Concept 15.4 Alterations of chromosome number or structure cause some genetic disorders Nondisjunction leads to abnormal chromosome number. • Nondisjunction may occur if members of a pair of __________________________________________ do not separate properly during meiosis I or ________________________________ fail to separate during meiosis II. So, nondisjunction leads to an ______________________________ chromosome number. SEE PICTURE ON POWERPOINT. • Offspring resulting from the fertilization of a normal gamete with one produced by nondisjunction have an abnormal number of a particular chromosome, a condition known as ____________________________. o Trisomic cells have ________________________________________________________________ ________________________________________________________ and have 2n + 1 chromosomes. o Monosomic cells have only __________________________________________________________ _________________________________________________________ and have 2n − 1 chromosomes. • Organisms with more than two complete sets of chromosomes are _______________________________. o The terms _________________________________ (3n) and ___________________________ (4n) indicate three or four chromosomal sets, respectively. Breakage of a chromosome can lead to four types of changes in chromosome structure. • A deletion occurs when _____________________________________________________________. The chromosome is missing certain genes. • A duplication occurs when _____________________________________________________________ ____________________________________________________________________________________. • An inversion occurs when a chromosomal fragment __________________________________________ _____________________________________________________________________________________. • In _______________________________, a chromosomal fragment joins a nonhomologous chromosome. • _____________________________ and _______________________________ are typically harmful. • Reciprocal translocations or inversions can alter _____________________________________ because a gene’s expression is influenced by its location among neighboring genes. 15-5 Human disorders are due to chromosome alterations. (SEE GENETIC DISORDER CHART) • Several serious human disorders are due to alterations of chromosome number and structure. • Although the frequency of aneuploid zygotes may be quite high in humans, most of these alterations are so disastrous to development that affected embryos are spontaneously aborted long before birth. • Certain aneuploid conditions upset the genetic balance less than others, making survival to birth and beyond possible. o Surviving individuals have a set of symptoms—a syndrome—characteristic of the type of aneuploidy. o Genetic disorders caused by aneuploidy can be diagnosed before birth by ______________________. • One aneuploid condition, Down syndrome, is due to __________________________________________ _____________________________________________________________________________________. o Trisomy 21 affects one in ________________ children born in the United States. o Most cases of Down syndrome result from _____________________________________ during gamete production in one parent. o The frequency of Down syndrome increases with the ______________________________________. • Nondisjunction of sex chromosomes produces a variety of aneuploid conditions in humans. • An XXY male has _________________________________________, which occurs once in every 500 to 1,000 live male births. o These individuals have male sex organs but abnormally small testes and are sterile. o Although the extra X is inactivated, some breast enlargement and other female characteristics are common. o Affected individuals may have subnormal intelligence. • Males with an extra Y chromosome (XYY) tend to be somewhat taller than average. • _______________________________________, which occurs once in every 1,000 births live female births, produces healthy females. • Monosomy X, or ________________________________ (X0), occurs once in every 2,500 births live female births. o This is the only known viable monosomy in humans. o X0 individuals are phenotypically ___________________________ but are sterile because their sex organs do not mature. o Most have normal intelligence 15-6 • Deletions, even in a heterozygous state, can cause severe problems. • One syndrome, _______________________________, results from a specific deletion in chromosome 5. o These individuals are mentally retarded, have small heads with unusual facial features, and have a cry like the mewing of a distressed cat. o This syndrome is fatal in infancy or early childhood. • Chromosomal ___________________________________ have been implicated in certain cancers, including chronic myelogenous leukemia (CML). o CML occurs when a large fragment of chromosome _________ switches places with a small fragment from the tip of chromosome _________. Concept 15.5 Some inheritance patterns are exceptions to the standard Mendelian inheritance The phenotypic effects of some mammalian genes depend on whether they are inherited from the mother or the father. • Variation in phenotype _________________________________________________________________ ____________________________________________________________is called genomic imprinting. • Genomic imprinting occurs during gamete formation and results in the silencing of a particular allele of certain genes. Imprinted genes are not expressed. • In each generation, old imprints are _______________________________________________________ _____________________________________________________, and the chromosomes of the developing gametes are newly imprinted according to the sex of the individual forming the gametes. • The hypothesis that ____________________________________ directly silences an allele is consistent with the evidence that heavily methylated genes are usually inactive. • Most known imprinted genes are critical for ________________________________________________. Extranuclear genes exhibit a non-Mendelian pattern of inheritance. • Extranuclear or cytoplasmic genes are found in ___________________________________ and _________________________________________. o These organelles reproduce themselves and transmit their genes to daughter organelles. o Organelle genes do not display ____________________________________ inheritance. • Because a zygote inherits all its mitochondria from the ________________________, all mitochondrial genes in most animals and plants demonstrate ______________________________________________. 15-7 • Several rare human disorders are produced by mutations to mitochondrial DNA. o These disorders primarily affect the ATP supply by producing defects in the electron transport chain or ATP synthase. o Other mitochondrial mutations may contribute to diabetes, heart disease, and other diseases of aging, such as Alzheimer’s disease. 15-8