Chapter 4: Modification of Mendelian Ratios Honors Genetics

MENDEL’S POSTULATES #1: Unit factors come in pairs. #2: Unit factors have either a dominant or recessive form. #3: Unit factors segregate/ separate during gamete formation. #4: Unit factors assort independently from one another. Chapter 3 Lessons #1: Chromosomes come in pairs. #2: GENES have either a dominant or recessive form. #3: Chromosomes segregate/ separate during gamete formation. #4: Chromosomes assort independently from one another.

Mendel’s postulates for OTHER INHERITANCE PATTERNS do NOT hold true in all respects These both hold TRUE for other types of inheritance. #3: Unit factors segregate/ separate during gamete formation. #4: Multiple unit factors assort independently from one another. These postulates DO NOT. #1: Unit factors come in pairs. #2: Unit factors have either a dominant or recessive form. Chapter 3 Lessons

Alleles are alternative forms of the same gene. Wild-Type Allele Appears most frequently in a population Arbitrary designation of NORMAL Often DOMINANT Used as the standard which all alterations/mutations are compared. Mutant Allele Contains modified genetic information. Specifies an altered gene product. Loss-of-Function Mutation that results in reduced function of a protein Null Allele Mutation that results in COMPLETE loss of function in proteins Gain-of-Function Mutation that results in increased function of a protein 4.1: Alleles Alter Phenotypes in Different Ways

4.2: Geneticists Use a Variety of Symbols for Alleles Mendel Abbreviations Dominant allele = capital letter of trait of interest Recessive allele = lowercase letter of trait of interest Work with Drosophila melanogaster (fruit fly) Mutant allele = lowercase letter if recessive; capital letter if dominant. Wild type allele = uses same letter designation with superscript + A slash (/) between the letters designates the location of the allele on homologous chromosomes.

Cross between parents with contrasting traits may produce offspring with intermediate phenotypes. Occurs when the phenotype is controlled by a single gene with two alleles, neither of which is dominant. Because there is no dominant trait, abbreviations can vary: Red = R 1 / White = R 2 R = Red White = W 1 / Red = W 2 W = White Red = C R / White = C W C = Color 4.3: Neither Allele is Dominant in Incomplete (Partial) Dominance

Snapdragons: Red + White = Pink Red = C R / White = C W Incomplete/Partial Dominance

Human Example: NORMAL have 100% activity of the affected enzyme. CARRIERS have 50% activity of the affected enzyme. AFFECTED have 0% activity of the affected enzyme.

QUESTION #1, PAGE 87 IN SHORTHORN CATTLE, COAT COLOR MAY BE RED, WHITE, OR ROAN. ROAN IS AN INTERMEDIATE PHENOTYPE EXPRESSED AS A MIXTURE OF RED AND WHITE HAIRS. THE FOLLOWING DATA ARE OBTAINED FROM VARIOUS CROSSES: RED X RED = ALL RED WHITE X WHITE = ALL WHITE RED X WHITE = ALL ROAN ROAN X ROAN = ¼ RED; ½ ROAN, ¼ WHITE HOW IS COAT COLOR INHERITED? WHAT ARE THE GENOTYPES OF PARENTS AND OFFSPRING FOR EACH CROSS?

RED X RED = ALL RED C R /C R X C R /C R = C R /C R WHITE X WHITE = ALL WHITE C W /C W X C W /C W = C W /C W RED X WHITE = ALL ROAN C R /C R X C W /C W = C R /C W ROAN X ROAN = ¼ RED; ½ ROAN, ¼ WHITE C R /C W X C R /C W = C R /C R, C R /C W, C W /C W CRCR CRCR CWCW CWCRCWCR CWCRCWCR CWCW CWCRCWCR CWCRCWCR CRCR CWCW CRCR CRCRCRCR CWCRCWCR CWCW CRCWCRCW CWCWCWCW

Incomplete: Phenotype expression different than either parent. MIXTURE Codominance: Phenotype expression that is equal to BOTH parent’s phenotypes. Incomplete/Partial vs. Codominance

4.4: Codominance and MN Blood Groups Joint expression of BOTH alleles. In humans, 2 forms/alleles for the glycoprotein are present on the red blood cell surface, M and N The gene for the glycoprotein is located on chromosome #4. The 2 alleles are designated L M and L N GenotypePhenotype LMLMLMLM M LMLNLMLN MN LNLNLNLN N

4.5: ABO Blood Groups: Multiple Alleles Identified by Landsteiner in The alleles for ABO blood groups are located on chromosome 9.

4.5: ABO Blood Groups 3 alleles I = isoagglutinogen; agglutination means to clump. I A = A antigens; B antibodies I B = B antigens; A antibodies I O = NO antigens; A and B antibodies GenotypeAntigenPhenotype IAIAIAIA A A IAIO/IAiIAIO/IAiA IBIBIBIB B B IBIO/IBiIBIO/IBiB IAIBIAIB A and BAB I O I O /iiNO antigensO

Bombay Phenotype Rare cases of incomplete formation of carbohydrates that form the A and B antigens, called the H substance. Results in an O phenotype, although they do not have O blood; they will still have A and/or B antigens on their red cell surface. Issues arise at the time of transfusion; if they test RBC’s only in the patient, they could receive incompatible blood and will suffer a transfusion reaction. See pedigree, Page 64

Rh Factor Rh inheritance (+/-) follows traditional Mendelian Dominant/Recessive inheritance patterns. Rh + is Dominant Rh – is Recessive Rh pos can be homozygous dominant or heterozygous (+/+ or +/-) Rh neg must be homozygous recessive (-/-) Referenced as the D antigen Rh + = D Rh - = d

A man is suing his wife for divorce on the grounds of infidelity. Their first child and second child, whom they both claim, are blood groups O and AB, respectively. The third child, whom the man disclaims, is blood type B. (a)Can this information be used to support the man's case? MN/ABO Practice

(a)Can this information be used to support the man's case? Child #1: I O I O Child #2: I A I B Child #3: I B I B or I B I O MOTHER’S GENOTYPE: I A I O FATHER’S GENOTYPE: I B I O

A man is suing his wife for divorce on the grounds of infidelity. Their first child and second child, whom they both claim, are blood groups O and AB, respectively. The third child, whom the man disclaims, is blood type B. (b) Another test was made using the M-N blood group system. The third child was group M, the man was group N. Can this information be used to support the man's case? MN/ABO Practice

(b) Another test was made using the M-N blood group system. The third child was group M, the man was group N. Can this information be used to support the man's case? Child 3: L M L M Father: L N L N Impossible for the man to be the child’s father due to the difference in M and N antigen on the red cell surface.

4.6: Lethal Alleles Represent Essential Genes Mutations resulting in the production of a gene product that is nonfunctional can often be tolerated in the heterozygous form. Behaves as a recessive allele If present in the homozygous condition it is considered LETHAL and the organism will not survive. The time of death is dependent on when the product is needed. Example: Huntington’s Disease Gradual nervous and motor degeneration Late-onset

Phenotypes are Often Affected by More Than One Gene Gene interaction is when several genes influence a particular characteristic. It doesn’t necessarily mean that genes directly interact with each other but that the cell products of gene expression influence a common phenotype. Often described as a CASCADE event. Epigenesis is the increased complexity in the development of an organ/system and is under the control of one or more genes. Example: Insect eyes and mammalian ears A mistake in the CASCADE of events can lead to mutations and poor development, leading to blindness or deafness.

Epistasis Expression of one gene/gene pair masks or modifies the expression of another gene/gene pair. Can be antagonistic or complementary #1: RECESSIVE EPISTASIS: Epistatic/Hypostatic Homozygous presence of a recessive allele prevents/masks the expression of other alleles at a second location. The alleles at the first locus are epistatic to the alleles at the second locus. The alleles at the second locus are hypostatic to the alleles at the first locus. EXAMPLE: Bombay phenotype The FUT1 gene overrides the expression of the I A and I B alleles.

Epistasis #2: DOMINANT EPISTASIS: A single Dominant allele at locus 1 influences the expression of the alleles at locus 2. EXAMPLE: Squash color; the presence of the dominant A allele for white squash is expressed regardless of what is coded for at the second location. Absence of the A allele will produce either yellow (BB, Bb) or green (bb). #3: COMPLEMENTARY GENE INTERACTION: Two gene pairs COMPLEMENT one another so that at least one dominant allele must be present from each pair of genes to express a particular phenotype. EXAMPLE: Pea flower color; 2 proposed locations/genes for flower color; the presence of at least one dominant allele at either location allows for expression of allele.

EPIGENETICS The study of how the genome is influenced by outside factors. EPIGENESIS Cascade of events that leads to development of complex structure. Gene interaction is essential. EPISTASIS Expression of one gene or gene pair masks, modifies, or complements the expression of another gene or gene pair.

4-10: Expression of a Single Gene May Have Multiple Effects PLEIOTROPY: expression of a SINGLE gene has multiple phenotype effects. Marfan Syndrome: Mutation of fibrillin protein, a necessary connective tissue protein that provides structural integrity for many body tissues. Single m]gene mutation = multiple effects. Porphyria variegata: Mutation in enzyme that breaks down porphyrin, a component of hemoglobin. Porphyrins build up in body tissues, causing a wide range of symptoms.

4.11: X-linkage Covered with Chapter 3 pedigree Practice. Refers to genes located ONLY on the X chromosome. Female carry 2 copies Males have only 1 copy Remember the rules In X-linked RECESSIVE pedigrees, affected mothers will have 100% affected sons. In X-linked DOMINANT pedigrees, affected fathers will have 100 % affected daughters.

For Quiz: 1) Correct and Review Chapter 4 Quiz 2) Review Powerpoints, focus on Vocabulary #1: Chapter 4 #2: Epigenetics 3) Practice Punnett Squares and Pedigrees for Sex-linked (X-linked) traits. 4) MN/ABO/Rh Blood Group Practice

Still to finish… 4.12 Sex-influenced inheritance 4.13 Environmental Affect of phenotype expression 4.14 Extranuclear inheritance