Overview :Location genes along chromosomes

Ch 15: The Chromosomal Basis of Inheritance  Mendel’s “hereditary factors” were genes that we know are located on chromosomes  Location of a particular gene can be seen by tagging isolated chromosomes with a fluorescent dye that highlights the gene  Concept 15.1: mendelian inheritance has its physical basis in the behavior of chromosomes  15.2: sex-linked genes exhibit unique patterns of inheritance  15.3: linked genes tend to be inherited together because they are located near each other on the same chromosome  15.4: alterations of chromosome number or structure cause some genetic disorders  15.5: some inherited patterns are exceptions to standard mendelian inheritance  Mitosis and meiosis were first described in the late 1800s  The chromosome theory of inheritance states: -mendelian genes have specific loci (positions) on chromosome -chromosome undergo segregation and independent assortment  Behavior of chromosomes during meiosis can account for Mendel’s laws of segregation and independent assortment  First solid evidence associating a specific gene with a specific chromosome originate with Thomas Hunt Morgan with fruit flies that provided convincing evidence that chromosome are the location of Mendel’s heritable factors  Several characteristics make fruit flies a convenient organism for genetic studies -they produce many offspring -generation can be bred every two weeks - they have only four pairs of chromosomes  Morgan noted wild type, or normal, phenotypes that were common in the fly populations  Traits altenative to the wild type are called mutant phenotypes  In an experiment, morgan mated male flies with white eyes (mutant) with female flies with red eyes (wild type) - F1 generations all had red eyes - F2 generation showed the 3:1 red white eyes ration, but only males had white eyes  Morgan concluded that white-eyed mutant allele must be located on X chromosome  Morgan’s finding supported the chromosome theory of inheritance

Key concepts

C 15.1: Mendelian inheritance has its physical basis in the behavior of chromosomes

Morgan’s experimemntal evidence: scientific inquiry

C15.2: Sex-linked genes exhibit unique patterns of inheritance

 In humans (&some other animals), chromosomes determine sex -human and other mammals, there are 2 varieties of sex chromosomes: a large X chromosome and a smaller Y chromosome -only ends of Y chromosomes have regions that are homologous with the corresponding region of X chromosome (SRY gene on Y codes for a protein that directs male development  Female = XX (each gamete contains an X)  Males = XY (each gamete contains an X OR a Y)  Other animals have different methods of sex determination  Sex chromosome also have genes unrelated to sex that are called sex-linked gene  In humans, sex-linked usually refers to a gene on the larger X chromosome and follw specific patterns of inheritance

Inheritance of Sex-linked genes

 For a recessive sex-linked trait to be expressed - a female need two copies of the allele - male only one copy of allele (thus sex-linked recessive disorders more common to males)  Color blindness:  Some disorder caused by recessive alleles on the X chromosome in humans: -Color blindness -Duchenne muscular dystrophy (1/3500 males) -Hemophilia o Hemophilia A (1 in 5,000-10,000 male births) o Hemophilia B (1 in 20,000-34,000 male births) X inactivation in female mammals  In mammalian females, on of the 2 X chrm. in each cell is randomly inactivated during embryonic development  The inactive X condenses into a Barr body  If a female is heterozygous for a particular gene located on the X chrm., she will be a mosaic for that character  Each chrm has hundreds or thousands of genes (except Y chrm)  Genes located on same chrm that tend to be inherited together are called linked genes  Morgan did other experiments with fruit flies to examine linkage of 2 character body color and wing size  The genetic findings of Mendel and Morgan relate to the chromosomal basis of recombination  Morgan found that body color and wing size are usually inherited together in specific combinations (parental phenotypes)  Noted that these genes don’t assort independently and reasoned they were on same chrm  However, nonparental phenotypes were usually produced  genetic recombination, the production of offspring with combinations of traits differing from either parent  Offspring phenotype = parental phenotypes are called parental types  Offspring with nonparental phenotypes (new combinations of traits) are called recombinant types, or recombinants  A 50% frequency of recombination is observed for any two genes on different chromosomes  Morgan discovered that genes can be linked, but the linkage was incomplete, because some recombinant phenotypes were observed  He proposed that some process must occasionally break the physical connection between genes on the same chrm  That mechanism was the crossing over of homologous chrm  Recombinant chromosomes bring alleles together in new combinations in gametes  Random fertilization increases further the number of variant combinations that can be produced  This abundance of genetic variation is raw material upon which natural selection works

C15.3: Linked genes tend to be inherited together bcc they are located near each other on the same chrm Genetic recombination and linkage

Recombination of unlinked genes: independent assortment of chromosomes

Recombination of linked genes: crossing over

New combination of alleles: variation for normal selection

Mapping the distance between genes using recombination data: scientific inquiry

 Alfred Sturtevant, one of Morgan’s students. Constructed a genetic map, an ordered list of the genetic loci along a particular chromosome  Sturtevant predicted that the farther apart two genes are, the higher the probability that a crossover will occur between them and therefore the higher recombination frequency  Linkage map is a genetic map of a chromosome based on recombination frequencies. Distances b/w genes can be expressed as map units; (= centimorgan), represents a % recombination frequency  Map units indicate relative distance and order, not precise location of genes  Genes that are far apart on the same chromosome can have recombination frequency near % the genes are physically linked, but genetically unlinked (behave as if on diff chrm)  Sturtevant used recombination frequencies to make linkage maps of fruit fly genes….  Large-scale chrm alterations in human and other mammals often lead to spontaneous abortions (miscarriages) or cause a variety of development disorders  Plants tolerate such genetic changes better than animals do  In nondisjunction, during meiosis pairs of homologous chrm t separate normally - one gamete receives two of the same type of chrm - another gamete receives no copy  A neuploidy results from fertilization of gametes in which nondisjunction occurred - a monosomic zygote has only one copy of a particular chrm - a trisomic zygote has three copies of a particular chromosome  Polyploidy is a condition in which an organism has more than 2 complete sets of chrm -triploidy (3n) is three sets of chrm -tetraploidy (4n) is four sets of chrm  Plyploidy is common in plants, but not in animals  Breakage of a chrm can lead to four types of changes in chromosome structure   Alterations of chrm number and structure are associated with some serious disorders  Some types of aneuploidy appear to upset the genetic balance less than others…. - down syndrome (trisomy 21) - Edwards syndrome (trisomy 18) - papau syndrome (trisomy 13) - turner syndrome (XO) - kleinfelter syndrome (XXY)

C15.4: alterations of chrm number of structure cause some genetic disorders Abnormal chromosome number

Alteration of chrm structure Human disorders due to chromosomal alterations

Down syndrome (trisomy 21) [1/700 births]

 Down syndrome is an aneuploid condition that results from three copies of chr 21  Frequency of down syndrome increases with the age of the mother, a correlation that has not been explained  Edward’s syndrome (trisomy 18)  Patau’s syndrome (trisomy 13)  Syndrome cri du chat(“cry of the cat”), results from a specific deletion of chrm 5 -mental retardation and has a catlike cry; individuals usually die in infancy or early childhood  Certain cancers, including chronic myelogenous leukemia (CML), are caused by translocations of chmr  There are two normal exception to the mendelian genetics - one involves genes located in the nucleus - one involves genes located outside the nucleus  In both cases, the sex of the parent contributing an allele is a factor in the pattern of inheritance  For a few mammalian traits, the phenotype depends on which parent passed along the alleles for those traits  Such variation in phenotype is called genomic imprinting  Genomic imprinting involves the silencing of certain genes that are “stamped” with an imprint during gamete production  It appears that imprinting is the result of the methylation (addition of –CH3) of cysteine nucleotides  Genomic imprinting is thought to affect only a small fraction of mammalian genes  Most imprinted genes are critical for embryonic development  Extranuclear genes (or dytoplasmic genes) are genes found in cytoplasmic organelles (e.g., mitochondria, chloroplasts, and other plant plastids)  Extranuclear genes are inherited maternally because the zygote’s cytoplasm comes from the egg  The first evidence of extranuclear genes came from the studies on the inheritance of yellow or white patches on leaves of an otherwise green plant  Some defects in mitochondrial genes prevent cells from making enough ATP and result in diseases that affect the muscular and nervous systems - for ex: mitochondrial myopathy and leber’s hereditary optic neuropathy 1.Explain the chromosomal theory of inheritance and its discovery 2.Explain why sex-linked diseases are more common in human males than females 3.Distinguish between sex-linked genes and linked genes 4.Explain how meiosis accounts for recombinant phenotypes 5.Explain how linkage maps are constructed 6.Explain how nondisjunction can lead to aneuploidy 7.Define trisomy, triploidy, and polyploidy 8.Distinguish among deletions, duplications, inversions, and translocations 9.Explain genomic imprinting 10.Explain why extranuclear genes are not inherited in a Mendelian fashion

Disorders caused by structurally altered chrm

C15.5: some inheritance patterns are exceptions to standard menelian inheritance

Genomic imprinting

Inheritance of organelle genes

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