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The Chromosomal Basis of Inheritance (Chapter Fifteen) I. RELATING MENDELISM TO CHROMOSOMES A.

Mendelian Inheritance Has Its Physical Basis in the Behavior of Chromosomes During Sexual Life Cycles 1. Connections between Mendels discoveries and chromosomal behavior began to be made in around 1900. In 1902, Walter Sutton, Theodor Boveri, and others independently formed a chromosome theory of inheritance, a. which states that Mendelian genes have specific loci on chromosomes, and it is the chromosomes that undergo segregation and independent assortment. B. Morgan Traced a Gene to a Specific Chromosome 1. Thomas Morgan was the first to associate a specific gene with a specific chromosome. 2. Morgans Choice of Experimental Organism a. Morgan chose a species of fruit fly, Drosophila melanogaster, which feeds on the fungi growing on fruit. A single mating of fruit flies produces hundreds of offspring that can mature in two weeks. i. Additionally, fruit flies only have four pairs of chromosomes, easily distinguishable with even a light microscope. ii. Female fruit flies have a homologous pair of X chromosomes, while males have one X and one Y chromosome. iii. He established that the normal phenotype for a character is called the wild type, such as red eyes in Drosophila. iv. Alternatives to the wild type are called mutant phenotypes, because they are due to alleles assumed to have originated as changes or mutations in the wild-type allele. 3. Discovery of Sex Linkage a. After Morgan discovered a male fly with white eyes, he mated it with a red-eyed female. The resulting offspring had red eyes, which suggested that red eyes were dominant. When he bred the first generation to each other, he found the usual 3:1 phenotypic ratio. i. However, the white-eye trait only showed up in males. Morgan deduced that the gene affecting his white-eyed mutant was located exclusively on the X chromosome, where there was no corresponding eye-color locus on the Y chromosome. Since the mutant allele was recessive, females could only have white eyes if she received the allele on two chromosomes.

ii. Since a male only received one copy of the gene, there would be no wild- type allele to offset the recessive allele. b. Sex-linked genes are those located on a sex chromosome. C. Linked Genes Tend to Be Inherited Together Because They are Located On the Same Chromosome 1. Genes located on the same chromosome tend to be inherited together in genetic crosses because the chromosome is passed on as a unit these are said to be linked genes. a. In Morgans crossing of body color and wing size, he found that the two traits were usually inherited together in specific combinations because the genes are on the same chromosomes. D. Independent Assortment of Chromosomes and Crossing Over Produce Genetic Recombinants 1. Production of offspring with new combinations of traits inherited from two parents is genetic recombination. 2. The Recombination of Unlinked Genes: Independent Assortment of Chromosomes a. When Mendel studied dihybrid plants, he learned that some offspring have combinations of traits that do not match either parent in the parental generation. i. For example, consider crossing a pea plant with yellow-round seeds (heterozygous for both, YyRr) and a pea plant with greenwrinkled seeds (homozygous for both, yyrr). Half the offspring should inherit a phenotype matching either one of the parents they are called parental types. But other phenotypes display new combinations of seed shape and color: they are called recombinants. Since 50% of all offspring are recombinants, geneticists say there is a 50% frequency of recombination. b. A 50% frequency of recombination is observed for any two genes located on different chromosomes. 3. The Recombination of Linked Genes: Crossing Over a. Linked genes do not assort independently because they tend to move together through meiosis and fertilization. i. However, recombination between linked genes can occur. Morgan proposed that there is some mechanism that exchanges segments between homologous chromosomes that occasionally break linkage between two genes. ii. Subsequent experiments showed that such an exchange (crossing over) accounts for recombination of linked genes.

E. Geneticists Can Use Recombination Data To Map a Chromosomes Genetic Loci 1. One of Morgans students, Alfred H. Sturtevant, discovered a method for constructing a genetic map, an ordered list of the genetic loci a long a particular chromosome. a. He hypothesized that the recombination frequencies calculated from experiments reflect the distances between genes on a chromosome. b. Assuming that the chance of crossing over is approximately equal at all points on a chromosome, he predicted that the farther apart two genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency. c. A genetic map based on recombination frequencies is specifically called a linkage map. i. He expressed the distance between genes in map units, defining one map unit as equivalent to a 1% recombination frequency. 2. It is also possible for more than one crossover to occur and thus cancel out a first crossover, reducing the observed number of recombinant offspring. 3. Since the frequency of crossing over is not actually uniform over the length of the chromosome, map units do not have absolute size. Linkage map portrays a sequence of genes on a chromosome, but not the precise location of genes. 4. Cytological maps of chromosomes locate genes with respect to chromosomal features. II. SEX CHROMOSOMES A. The Chromosomal Basis of Sex Varies With The Organism 1. In humans and other mammals, there are two varieties of sex chromosomes, designated X and Y. a. As previously stated, females result from two X chromosomes, while a male results from a combination of X and Y. b. In both testes and ovaries, the two sex chromosomes separate during meiosis, and each gamete receives one. Each ovum contains one X chromosome, while half the sperm contain and X and half the sperm contain a Y chromosome. c. The SRY gene (sex-determining region of Y) prompts development of gonads into testes rather than ovaries. It is a chemical trigger that codes for a protein that regulates many other genes. 2. In the X-O system, females are XX while males are XO. This occurs in grasshoppers, crickets, roaches, and some other insects.

3. In birds, some fishes, and some insects, the variable that determines sex is present in the ovum, where males are ZZ and females are ZW (so as not to be confused with X and Y). 4. In most species of bees and ants, females develop from fertilized (diploid) ova, while males developed from unfertilized eggs (haploid). B. Sex-Linked Genes Have Unique Patterns of Inheritance 1. In humans, the term sex-linked usually refers to genes on the X chromosome. a. If a sex-linked trait is due to a recessive allele, a female will express the phenotype only if she is a homozygote. i. Because males only have one locus, any male receiving the recessive allele from his mother will express the trait. Thus, far more males than females will have disorders from sex-linked recessives. 2. Sex-Linked Disorders in Humans a. Duchenne muscular dystrophy is characterized by a progressive weakening of muscles and loss of coordination, and is caused by the absence of a key muscle protein called dystrophin. b. Hemophilia is a sex-linked recessive trait defined by the absence of one or more of the proteins required for blood clotting. Bleeding is prolonged because a firm clot is slow to form. 3. X Inactivation in Female Mammals a. Although female mammals inherit two X chromosomes, one X chromosome in each cell becomes almost complexly inactivated during embryonic development. i. As a result, cells of females and males have the same effective dose (one copy) of genes with loci on the X chromosome. ii. The inactive X in each cell of a female condenses into a compact object, called a Barr body, which lies along the inside of the nuclear envelope. Most of the genes of the X chromosome forming the Barr body are not expressed, but some remain active. b. It is completely random in each embryonic cell as to which X chromosome will form the Barr body. i. Females will then contain a mosaic of two types of cell: ones with an active X from the father, and ones with an active X from the mother. ii. After an X chromosome is inactivated in a particular cell, all mitotic descendants of that cell will have the same inactive X. This results in the mosaicism seen in the coloration of a tortoiseshell cat.

c. Inactivation involves attachment of methyl groups to cytosine. i. A gene called XIST (X-inactive specific transcript) is found on the Barr-body chromosome. ii. The genes product produces an RNA molecule that attach to the X chromosome and cover it. This seems to initiate X inactivation. III. ERRORS AND EXCEPTIONS IN CHROMOSOMAL INHERITANCE A. Alterations of Chromosome Number of Structure Cause Some Genetic Disorders 1. Alterations of Chromosome Number; Aneuploidy and Polyploidy a. There is an occasional error called a nondisjunction, where members of a pair of homologous chromosomes do not move apart properly during meiosis I or sister chromatids fail to separate during meiosis II. i. One gamete will receive two of the same type of chromosome while the other will receive no copy. ii. If either of the irregular gametes unites with a normal one, the offspring will have an abnormal chromosome number, known as aneuploidy. If there are three copies of a chromosome in the fertilized eggs, the aneuploid cell is trisomic for that chromosome, while it is monosomic for the chromosome if there is a missing chromosome. b. Some organisms have more than two complete chromosome sets. The general term is polyploidy, which the specific terms triploidy and tetraploidy for three or four chromosomal sets. i. Polyploidy is common in the plant kingdom, while they are much less common in the animal kingdom. Having entire extra sets seems to disrupt balance less than one extra or missing chromosome. 2. Alterations of Chromosome Structure a. A deletion occurs when a chromosomal fragment is lost during cell division, which results in the absence of certain genes. b. A fragment might become attached as an extra segment to a sister chromatid and result in duplication. c. A chromosomal fragment might also reattach to the original chromosome in reverse orientation, producing an inversion.

d. A fourth possible result is translocation, in which the fragment would join a nonhomologous chromosome. e. Deletions and duplications are especially likely to occur during meiosis. i. Homologous chromatids sometimes break and join at incorrect places, with one partner giving up more genes than it receives. A large deletion may result in the absence of essential genes. f. Duplications and translocations also tend to have harmful effects. g. Inversions and translocations can alter phenotype because gene expression is influenced by location among neighboring genes 3. Human Disorders Due to Chromosomal Alterations a. Most aneuploidy in humans would have disastrous results and are naturally aborted before birth. i. One aneuploid condition, Down syndrome, results from an extra copy of chromosome 21. Down syndrome results in characteristic facial features, short stature, heart defects, susceptibility to respiratory infection, and mental retardation. b. Nondisjunction of sex chromosomes produces a variety of aneuploid conditions in humans. i. Most of these tend to upset genetic balance less than aneuploid conditions involving autosomes. c. An extra X chromosome in a male, producing an XXY, results in Klinefelter syndrome, in which males will have abnormally small testes and be sterile. i. The syndrome also includes other feminine body characteristics. ii. Males with an extra Y chromosome (XYY) tend to be somewhat taller than average. iii. Females with trisomy X (XXX) are healthy and cannot be distinguished from XX females except by karyotype. iv. Monosomy X, called Turner syndrome, is the only known viable monosomy in humans, and results in sterile females. d. Alteration in chromosome structure can also cause disorders, such as cri du chat, where part of chromosome 5 is deleted. i. Children with this specific deletion are mentally retarded, with a small head and unusual facial features, and a cry that sounds like the mewing of a cat. e. Chromosomal translocation can result in certain cancers, such as chronic myelogenous leukemia, which affects cells that give rise to white blood cells. i. A portion of chromosome 22 has switched places with a small fragment from a tip of chromosome 9. B. The Phenotypic Effects of Some Mammalian Genes Depend on Whether They were Inherited From the Mother or Father (Imprinting) 1. Most of the time, a specific allele will have the same effect whether inherited from the mother or father. However, this is not always the case.

2. In the Prader-Willi syndrome, there is mental retardation, obesity, short stature, and unusually small hands and feet. 3. People with the Angelman syndrome exhibit spontaneous laughter, jerky movements, and other motor and mental systems. a. This seems to be a result of deletion of a particular segment of chromosome 15. b. If the abnormal chromosome is from the father, they will have PraderWilli syndrome, whereas they will have Angelmann syndrome if it is from the mother. 4. A process called genomic imprinting can explain the PraderWilli/Angelmann enigma and some similar phenomena. a. In this process, a gene on one chromosome is somehow silenced, while its allele on the homologous chromosome is left free to be expressed. b. The same alleles may have different effects on offspring depending on whether they were from the sperm or the egg. 5. Imprinting involves the addition of methyl groups to the cytosine nucleotides of one of the alleles. a. Heavily methylated genes are usually inactive and suggests that in these cases, the animal uses the allele that is not imprinted. In other cases, absence of methylation plays a role in silencing it. 6. Another genomic imprinting disorder is one called fragile X syndrome, where there is an abnormal X chromosome whose tip hangs on by a thin thread of DNA. C. Extranuclear Genes Exhibit a Non-Mendelian Pattern of Inheritance 1. Not all of a eukaryotic cells genes are located in the nucleus. 2. Extranuclear genes are found on small circles of DNA in mitochondria and in plants plastids, which reproduce themselves and transmit genes to daughter organelles. 3. They do not follow Mendelian inheritance. 4. Karl Correns found that coloration of offspring was determined only by the maternal parent (source of seeds) rather than the paternal parent (pollen source). 5. Maternal inheritance is also the rule for mitochondrial genes in mammals. Scientists have learned that mutations in mitochondrial DNA cause a number of rare human disorders. 6. Defects in proteins of the ETC or ATP synthase may result in energy deprivation. 7. Mitochondrial mutations could also contribute to some cases of diabetes and heart disease, or disorders that debilitate the elderly, such as Alzheimers disease.