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Chapter 4: Modification of Mendelian Ratios
Loss-of-function mutation : mutation that causes the loss or diminution of the specific wild-type function null allele: result of a complete loss of wild-type function : mutation that may enhance the function of the wild-type product : gene product presents no change to either the phenotype or the evolutionary fitness of the organism : Expressing a heterozygous phenotype that is distinct from the phenotype of either homozygous parent; also called partial dominance. Results in an intermediate phenotype. Example: Tay-Sachs disease, snapdragon flowers : Condition in which the phenotypic effects of a gene's alleles are fully and simultaneously expressed in the heterozygote. Example: MN blood group, ABO blood-type system : homozygous recessive individuals will not survive Example: Tay-Sachs disease : the presence of just one copy of the allele results in the death of the individual Example: Huntington disease : a genetic test to determine whether two mutations occur within the same gene. If two mutations are present in a cell at the same time and produce a wild-type phenotype (i.e., they complement each other), they are often nonallelic. If a mutant phenotype is produced, the mutations are noncomplementing and are often allelic. : condition in which a single mutation causes multiple phenotypic effects Example: Marfan syndrome, porphyria variegate : the pattern of inheritance resulting from genes located on the X chromosome hemizygous: having a gene present in a single dose in an otherwise diploid cell; usually applied to genes on the X chromosome in heterogametic males Example of X-Linked traits in Humans: color blindness, Hunter syndrome : a trait that is expressed in only one sex even though the trait may not be Xlinked (e.g., cock feathering) : phenotypic expression conditioned by the sex of the individual. A heterozygote may express one phenotype in one sex and an alternate phenotype in the other sex (e.g., pattern baldness in humans)

Gain-of-function mutation Neutral mutation

Incomplete dominance


Recessive lethal allele

Dominant lethal allele

Complementation test



Sex-Limited Inheritance

Sex-Influenced Inheritance


: the frequency, expressed as a percentage, with which individuals of a given genotype manifest at least some degree of a specific mutant phenotype associated with a trait : the degree to which a phenotype for a given trait is expressed; reflects the range of expression


: The transmission of traits strictly through the maternal parent. a wild-type phenotype is expressed under certain (permissive) conditions and a mutant phenotype under other (restrictive) conditions. Maternal effect Maternal inheritance . the mitochondria. usually due to DNA found in the cytoplasmic organelles. that is. Temperature-sensitive mutations: phenotypic expression determined by environmental conditions : Phenotypic effects in offspring attributable to genetic information transmitted through the oocyte derived from the maternal genome.2 Conditional mutation : A mutation expressed only under a certain condition. or chloroplasts.

female when 1. reptiles. : mode of sex determination in Drosophila. : mode of sex determination in all crocodiles. amphibians. most often sterile : XX/XO mode of sex determination. elegans : XX/XY mode of sex determination.3 Chapter 5: Sex Determination and Sex Chromosomes Heteromorphic chromosomes : dissimilar chromosomes that characterize one sex or the other in a wide range of species (e. and some lizards. Nonrecombining region of the Y (NRY): The rest (95%) of the chromosome that does not synapse or recombine with the X chromosome. aromatase: enzyme that converts androgens (male hormones) to estrogens (female hormones) Bisexual Intersex Protenor Lygaeus ZZ/ZW Genic balance theory Temperature-dependent SD Pseudoautosomal regions (PARS) : A region on the human Y chromosome that is also represented on the X chromosome. elegans (nematode worm) : individuals of an intermediate sexual condition. XY pair in mammals) : involves only the gonads. : mode of sex determination most common in birds but also seen in certain moths and butterflies. depends on the random distribution of the X chromosome into ½ of the male gametes during segregation Example: C. ratio of X chromosomes to sets of autosomes determines the sex—maleness is reached when 0. where gametes are produced Primary sexual differentiation Secondary sexual differentiation : involves the overall appearance of the organism.50 ratio of X to autosomal. females only produce X gametes but males produce both X and Y. SRY encodes for a protein (testis-determining factor [TDF]) that causes the undifferentiated gonadal tissue of the embryo to form testes Primary sex ratio : proportion of males to females conceived in a population . most turtles.0. including clear differences in organs as mammary glands and external genitalia Unisexual : also called dioecious and gonochoric.. refers to an individual contain only male or female reproductive organs : also called monoecious and hermaphroditic. some fish. Also known as the male-specific region of the Y (MSY) Sex-determining region Y (SRY) : critical gene that controls male sexual development. Sex determination is achieved according to the incubation temperature of eggs during critical period of embryonic development.g. and plants. Genes found in this region of the Y chromosome have a pattern of inheritance that is indistinguishable from genes on autosomes. refers to an individual containing both female and male reproductive organs (common in plants and animals) Example: Zea mays (maize/corn) and C.

In mammals. Barr body Lyon hypothesis XIST . this body represents an inactivated X chromosome.4 Secondary sex ratio Dosage compensation : proportion of each sex that is born (easier to determine than primary sex ratio) : A genetic mechanism that equalizes the levels of expression of genes at loci on the X chromosome. this is accomplished by random inactivation of one X chromosome. densely staining DNA-positive mass seen in the somatic nuclei of mammalian females. all descendant cells have the same X chromosome inactivated as their initial progenitor cell (imprinting) : X-inactive specific transcript. a locus in the X-chromosome inactivation center that controls inactivation of the X chromosome in mammalian females. Discovered by Murray Barr. Once inactivated. : The proposal describing the random inactivation of the maternal or paternal X chromosome in somatic cells of mammalian females early in development. : also known as sex chromatin body. leading to Barr body formation.

5n. enlarged ears. trisomy (2n+1) Autopolyploidy : the addition of one or more extra sets of chromosomes. 4n. disomy (2n). important source of genetic variability during evolution gene amplification: the process by which gene sequences are selected and differentially replicated either extrachromosomally or intrachromosomally : a segment of a chromosome is turned around 180 degrees within a chromosome paracentric inversion: centromere is not part of the rearranged chromosome segment pericentric inversion: centromere is part of the inverted segment inversion heterozygotes: organisms with one inverted chromosome and one noninverted : movement of a chromosomal segment to a new location in the genome reciprocal translocation: involves exchange of segments between two nonhomologous chromosomes Robertsonian translocation: A chromosomal aberration created by breaks in the short arms of two acrocentric chromosomes followed by fusion of the long arms of these chromosomes at the centromere. etc). : a heritable gap. autotraploids (4n) Alloploidy : hybridizing two closely related species. Inversion Translocation Fragile sites Genetic anticipation: The phenomenon in which the severity of symptoms in genetic disorders increases from generation to generation and the age of onset decreases from generation to generation. also called centric fusion. . polyploidy (3n. dominant trait on the X chromosome but not fully expressed—30% of females with fragile X are retarded while 80% of males with fragile X are retarded. of a chromosome that can be induced to generate chromosome breaks Fragile-X Syndrome: most common form of inherited mental retardation. homologs fail to disjoin during segregation Deletion : chromosome breaks in one or more places and a portion of it is lost terminal deletion: deletion near one end intercalary deletion: deletion within the interior of the chromosome Duplication : chromosome present more than once in the genome. It is caused by the expansion of trinucleotide repeats within or near a gene and was first observed in myotonic dystrophy. American cotton Gossypium : complete haploid sets of chromosomes are present diploidy (2n). Long narrow faces with protruding chins. or nonstaining region. hybrid organism may be sterile allotetraploid: genomes derived from same species amphidiploid: both original species are known.5 Chapter 6: Chromosome Mutations Aneuploidy : an organism gains or loses one or more chromosomes but not a complete set monosomy (2n-1). larger than their diploid relatives autotriploids (3n). triploidy (3n) Euploidy Nondisjunction : random error during the production of gametes. identical to the normal haloid complement of the same species.

small head size. Its signs and symptoms vary among affected individuals. etc. Due to the presence of several life-threatening medical problems. abnormally shaped head. : (47. many individuals with trisomy 18 die before birth or within their first month. a characteristic facial appearance. Turner syndrome : (45. trisomy. 5p-) Piece of chromosome 5 is missing. Associated with intellectual disability. familial Down syndrome: Translocation of chromosome 21 to one end of chromosome 14 resulting in inheritable down syndrome. monosomy. All affected individuals experience cognitive delays. and most are unable to conceive (infertile). . but the intellectual disability is usually mild to moderate. trisomy. : (47. Affects male physical and cognitive development. Most females with triple X syndrome have normal sexual development and are able to conceive children. and many affected girls do not undergo puberty unless they receive hormone therapy. Triplo-X Down syndrome Patau Syndrome Edwards syndrome : (47. Small. brain or spinal cord abnormalities. and clenched fists with overlapping fingers. 21+) Trisomy 21. 13+) Trisomy 13. 18+) Trisomy 18. Infants with this condition often have a highpitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development. an early loss of ovarian function.6 EXAMPLES OF PHENOTYPIC EFFECTS Klinefleter syndrome : (47. XXX) Caused by nondisjunction. this chromosomal change typically causes no unusual physical features. Heart defects. Cri du Chat : (46. : (47. Affects development in females. a small jaw and mouth. many infants with trisomy 13 die within their first days or weeks of life. and weak muscle tone in infancy. Due to the presence of several life-threatening medical problems. Although females with this condition may be taller than average. X) Caused by nondisjunction. XXY) Caused by nondisjunction. the most common feature of Turner syndrome is short stature. very small or poorly developed eyes.