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11.2 Complex Patterns of Inheritance Textbook pages 302-310 Main Idea Complex inheritance of traits does not follow inheritance patterns described by Mendel. Incomplete Dominance • Definition – the heterozygous phenotype is an intermediate phenotype between the two homozygous phenotypes • Example: – Red flowered snap dragons (RR) are crossed with white flowered snap dragons (rr), the heterozygous offspring is pink (Rr) – F1 self-fertilized, the flowers were red, pink, and white (ratio of 1:2:1) Codominance • Definition - both alleles are expressed in the heterozygous condition. • Recall: When an organism is heterozygous for a trait, the dominant phenotype is expressed. • Example – Sickle Cell Disease Sickle Cell Disease • Sickle cell allele common in people of African descent • About 9% of African Americans have one form or another of the trait. • Affects red blood cells and their ability to transport oxygen • Changes in hemoglobin cause a “C” shape • Heterozygous - normal and sickle shaped cells Sickle Cell Disease and Malaria • In Africa, those who are heterozygous for the sickle cell trait have a higher resistance to malaria. • Malaria death rate is lower where sickle cell is higher • Lower malaria rate, allows for people with sickle cell to live and reproduce, passing the trait to their offspring. • Consequence = sickle cell continues to increase in Africa. Multiple Alleles • Definition – having more than 2 alleles for a specific trait • Examples: – Blood groups in humans – Coat color in rabbits Blood Groups in Humans • ABO blood groups have 3 different forms of alleles, called AB markers • IA is type A • IB is type C • i is type O (absence of AB markers) • i is recessive to IA and IB • Rh factors: Rh+ or Rh-, Rh+ is dominant Coat Color of Rabbits • In rabbits, 4 alleles code for coat color: C, cch, ch, and c • Allele C is dominant to other alleles, results in full coat color • Allele c is recessive, results in albino phenotype when genotype is homozygous recessive • Allele cch is dominant to ch • Allele ch is dominant to c • Notation: C > cch > ch > c • Meaning: full color is dominant over chinchilla, which is dominant over Himalayan, which is dominant over albino. • 4 alleles for rabbit coat color produce 10 possible genotypes and 4 phenotypes • More variation in coat color come from the interaction of the color gene with other genes, agouti or broken gene Epistasis • Definition – interaction between alleles in which one allele hides the effects of another allele. • Example: – Labrador coat color is controlled by 2 sets of alleles – Dominant allele E determines if coat will have dark pigment – Dominant allele B determines how dark pigment will be – EEbb or Eebb – chocolate brown coat – Eebb, eeBb, eeBB – yellow coat (e masks the dominant B allele) Sex Determination • Sex chromosomes – determine gender, X and Y • XX = female • XY = male • Autosomes – the other 22 pairs of chromosomes Dosage Compensation • Females have 22 pairs of autosomes and 1 pair of X chromosomes • Males have 22 pairs of autosomes and 1 X and 1Y chromosome • X chromosome carries variety of genes necessary for development of males and females • Y chromosome has genes for male characteristics • In females, one of the X chromosomes stops working called dosage compensation or X-inactivation, occurs randomly and in all mammals • Due to the Human Genome Project, the National Institute of Health (NIH) believe some genes on the inactivated X chromosome are more active than previously thought. Chromosome Inactivation • Calico cat coat color caused by random inactivation of a particular X chromosome • Colors depend on active X chromosome • Orange formed by inactivation of X chromosome carrying black coat color allele • Black formed by activation of X chromosome carrying orange coat color allele Barr Bodies • Murray Bar (1949) observed inactivated X chromosome in female calico cats • Barr body – darkly stained, condensed inactivated X chromosome in nucleus • Only females have Barr bodies in their nuclei Sex-Linked Traits • Definition – traits controlled by genes located on X chromosome, also called Xlinked traits • Males have 1 X, more affected by recessive traits more than females • Females have 2 Xs which mask the effect of a recessive trait Red-Green Color Blindness • Recessive X-linked trait • 8% of males in the U.S. have red-green color blindness • Very rare in females Hemophilia • Recessive sex-linked disorder – delayed clotting of the blood • More common in males than females • Queen Victoria of England (1819-1901) – famous pedigree of hemophilia • Safer methods of blood transfusion decreased transmittal of blood-borne viruses Polygenic Traits • Definition – characteristic, such as eye color, skin color, height, and fingerprint pattern, that results from the interaction of multiple gene pairs • When frequency of dominant alleles is graphed, result is a bell-shaped curve Environmental Influences • Heart disease can be inherited, but also influenced by diet and exercise • Environment can influence phenotype • Examples: – Sunlight – Water – Temperature Sunlight and Water • These can affect the phenotype • Without sunlight, flowering plants don’t produce flowers • Without water, plants lose their leaves • In extreme heat, leaves droop, flower bud shrivel, chlorophyll disappears, roots stop growing Temperature • Temperature also influences the expression of genes • Siamese cat’s tail, ears, nose are dark because they are cooler than rest of body • Genes that code for color production only function under cooler conditions • Cooler regions = darker fur • Warmer regions = pigment production inhibited resulting in lighter fur Twin Studies • Studying inheritance patterns in twins helps scientists separate genetic contributions from environmental contributions • Identical twins are genetically the same and will both have the same trait • If traits are expressed differently, can be result of influence by environment • Concordance rate - % of twins who express a given trait • A large difference between fraternal twins and identical twins shows a strong genetic influence.