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THE INFLUENCE OF HEREDITY: THE NATURE OF NATURE OT 500 Spring 2016 WHAT DO WE MEAN BY HEREDITY? Biological transmission of traits/characteristics from one generation to another What we inherit makes certain behaviors possible, and limits us Genetics is the field of science that studies heredity Physical traits are inherited (height, hair color and texture, eye color) Genetics also plays a role in intelligence, and many personality traits (sociability, anxiety) and interests Genetics plays an important role in many diseases, and mental disorders (schizophrenia, autism, substance abuse) CHROMOSOMES AND GENES ARE THE FUNDAMENTAL UNITS OF HEREDITY Chromosomes Found in cells; humans have 23 pairs of rod-shaped structures; 46 chromosomes Genes Segments within chromosomes; 20,000 to 25,000 genes in every cell Regulate development of traits which may be transmitted by single gene, or many genes (polygenic) DNA Large strands, in double spirals (helix) that make up genes Composed of phosphate(P), simple sugar (S) Base pairs adenine with thymine (A – T) or cytosine with guanine (C – G) DOUBLE HELIX OF DNA Figure 2.1 CELL DIVISION Mitosis Cell division by which growth occurs; strands of DNA break apart, duplicate and are rebuilt resulting in identical copies of DNA strand (mutations can occur) CELL DIVISION Meiosis (reduction division) Cell division by which sperm and ova are produced; 23 chromosome pairs divide Result is a new cell with only 23 chromosomes 22 pairs are autosomes 23rd pair are sex chromosomes determines sex: X from mother and X or Y from father FIGURE 2.5: MITOSIS AND MEIOSIS THE 23 PAIRS OF HUMAN CHROMOSOMES Figure 2.3 HUMAN DIVERSITY • • • Fertilization: new cell (zygote) receives 23 chromosomes from the father’s sperm cell, and 23 from the mothers ovum Gene is a segment of chromosomes that control particular aspect of production of specific protein 23 pairs of chromosomes = genotype; while your observable characteristics are your phenotype TWINS Monozygotic Twins (MZ); Identical twins, same genes Derived from a single zygote that has split in two Dizygotic Twins (DZ) (about 2/3s of twins) Derived from two zygotes, and share 50% of genetic material Probability of twins increases with maternal age, use of fertility drugs; and dizygotic twins run in families CHROMOSOMAL OR GENETIC ABNORMALITIES Chromosomal abnormalities occur when children do not have the normal complement of 46 chromosomes Risk increases with the age of the parents Most common example, Down’s syndrome; trisomy 21 Sex-linked Chromosomal Abnormalities (abnormal # of sex chromosomes (eg. XYY; XXY-Klinefelter syndrome; X-Turner syndrome) Genetic Abnormalities: PKU (recessive); Huntingtons (dominant); Cystic Fibrosis (recessive) Sex-linked Abnormalities: only carried on the X sex chromosome eg. Hemophilia (recessive); more likely to affect sons of female carriers; Duchenne’s muscular dystrophy; color blindness DOWN SYNDROME/ TRISOMY 21 GENETIC COUNSELING AND PRENATAL TESTING Amniocentesis Routine among American women over age 35 Used to detect over 100 chromosomal and genetic abnormalities Indicates the sex of the baby Some risk of miscarriage AMNIOCENTESIS Figure 2.6 GENETIC COUNSELING AND PRENATAL TESTING Chorionic Villus Sampling (CVS) Can diagnosis abnormalities earlier than amniocentesis (done between the 9th-12th weeks) Slightly greater risk of spontaneous abortion Ultrasound Sonogram “picture” of fetus Beneficial in determining position of fetus Blood Tests Used to reveal presence of recessive genes in parents (eg. cystic fibrosis) Alpha-Fetoprotein (AFP) assay (detects neural tube defects) SONOGRAM Figure 2.7 PRENATAL ASSESSMENT CVS – Chorionic Villus Sampling BACK TO NATURE VS NURTURE: ENVIRONMENTAL EFFECTS ON GENE EXPRESSION Factors such as temperature, light, stress, nutrients, and other chemicals affect proteins produced by body…which may affect genes What is the difference between our genotype and our phenotype and what accounts for those differences??? Why identical twins are NOT identical in every way!!! Canalization: growth rates that are mostly genetically determined; When affected by environmental factors the rates have a tendency to return back to the genetically determined pattern THE PART OF DEVELOPMENT THAT IS NATURE Heritability Degree to which different traits are influenced by genetic factors We have learned a lot from twin studies, adoption studies, and other family relatedness/generational studies Darwin’s Influence: Theory of evolution Survival of the fittest and natural selection Epigenesis: A gradual process of increasing complexity due to interaction between heredity and the environment HOW GENES DETERMINE TRAITS • • • • • Traits are determined by pairs of genes; each pair is an allele; when both alleles for a trait are the same, the person is homozygous for that trait; when they differ, they are said to be heterozygous Dominant traits are expressed; recessive traits are not expressed when paired with a dominant trait eg. Brown eyes are dominant over blue eyes Additive heredity: A child’s visible traits, his/her phenotype, is mix of mother and father traits Regulator genes: Some genes turn other genes on and off Environmental influences ENVIRONMENTAL INFLUENCES ON GENE EXPRESSION: GENETIC-ENVIRONMENTAL CORRELATIONS Passive correlation: parents place their children in environments that promote certain skills that match their own genetics Evocative Correlation: The child’s genotype is consistent with certain behaviors; those behaviors evoke responses in others that are reinforcing Active Correlation: taking an active conscious role in pursuing one’s interests/activities; occupations that reflect our skills ENVIRONMENTAL EFFECTS ON HERITABILITY Heritability varies from one group to another Environment changes the heritability of a trait Genetic factors matter less when a characteristic is largely determined by environment Inherited traits lead to different characteristics in different contexts Reaction range – inherited traits as an array of possibilities rather than fixed points Epigenetic Framework: Development reflects the continual bidirectional exchanges between genetics and environment FIGURE 2.7: REACTION RANGE HOW DO GENES DETERMINE TRAITS? Traits are determined by pairs of genes and each member of pair is an allele Homozygous: Both alleles for a trait are the same Heterozygous: Alleles for a trait are different Averaging Effects of both alleles are shown Incomplete dominance or co-dominance Law of Dominance: When a Dominant allele is paired with recessive allele, the dominant allele appears in offspring USING RESEARCH TO SORT OUT THE EFFECTS OF GENETICS AND ENVIRONMENTAL INFLUENCES ON DEVELOPMENT Kinship Studies Genetic closeness of relatives Twin Studies Monozygotic twins share 100% of genes Dizygotic twins share 50% of genes (same as other siblings) Reared together versus reared apart Adoption Studies