2. AP Biology 2006-2007 Beyond Mendel’s Laws of Inheritance

3. AP Biology Extending Mendelian genetics  Mendel worked with a simple system  peas are genetically simple  most traits are controlled by a single gene  each gene has only 2 alleles, 1 of which is completely dominant to the other  The relationship between genotype & phenotype is rarely that simple

4. AP Biology Incomplete dominance  Heterozygote shows an intermediate, blended phenotype  example:  RR = red flowers  WW = white flowers  RW = pink flowers  make 50% less color RR RW WW

5. AP Biology Incomplete dominance true-breeding red flowers true-breeding white flowers X P 100% 100% pink flowers F 1 generation (hybrids) self-pollinate 25% white F 2 generation 25% red 1:2:1 50% pink

6. AP Biology Incomplete dominance CRCR CWCW male / sperm CRCR CWCW female / eggs _____ ____ 1:2:1 ____ 1:2:1 % genotype % phenotype CRCRCRCR CRCWCRCW CRCWCRCW CWCWCWCW ____ C R C W x C R C W _____

7. AP Biology Co-dominance  2 alleles affect the phenotype equally & separately  example: ABO blood groups  3 alleles  I A, I B, i  I A & I B alleles are co-dominant to each other  both antigens are produced  both I A & I B are dominant to i allele  produces glycoprotein(carbohydrate) antigen markers on the surface of red blood cells

8. AP Biology Genetics of Blood type pheno- type genotype antigen on RBC antibodies in blood donation status AI A I A or I A i type A antigens on surface of RBC anti-B antibodies __ BI B I B or I B i type B antigens on surface of RBC anti-A antibodies __ ABI A I B both type A & type B antigens on surface of RBC no antibodies universal recipient Oi ii i no antigens on surface of RBC anti-A & anti-B antibodies universal donor

9. AP Biology Blood compatibility  Matching compatible blood groups  critical for blood transfusions  A person produces antibodies against antigens in foreign blood  wrong blood type  donor’s blood has A or B antigen that is foreign to recipient  antibodies in recipient’s blood bind to foreign molecules  cause donated blood cells to clump together  can kill the recipient Karl Landsteiner (1868-1943) 1901 | 1930

10. AP Biology Blood donation clotting

11. AP Biology Pleiotropy  Most genes are pleiotropic  one gene affects more than one phenotypic character  wide-ranging effects due to a single gene  dwarfism (achondroplasia)  gigantism (acromegaly)

12. AP Biology Acromegaly: André the Giant

13. AP Biology Aa x aa Inheritance pattern of Achondroplasia aa A a Aa A a Aa x Aa ____ 50% dwarf:50% normal or 1:1 ____ 67% dwarf:33% normal or 2:1 ____

14. AP Biology Epistasis  One gene alters the expression of another gene  coat color in mice = 2 separate genes  C,c: locus determines color to be deposited pigment (C) or no pigment (c)  B,b: more pigment (black=B) or less (brown=b)  cc = albino, no matter B allele  9:3:3:1 becomes 9:3:4

15. AP Biology Epistasis in Labrador retrievers  2 genes: (E,e) & (B,b)  pigment (E) or no pigment (e)  pigment concentration: black (B) to brown (b) E–B–E–bbeeB–eebb

16. AP Biology Polygenic inheritance  Some phenotypes determined by additive effects of 2 or more genes on a single character  phenotypes on a continuum  human traits  skin color  height  weight  eye color  intelligence  behaviors

17. AP Biology Nature vs. nurture  Phenotype is controlled by both environment & genes Color of Hydrangea flowers is influenced by soil pH Human skin color is influenced by both genetics & environmental conditions Coat color in arctic fox influenced by heat sensitive alleles

18. AP Biology enzyme Skin color: Albinism Johnny & Edgar Winter albino Africans  However albinism can be inherited as a single gene trait melanin = universal brown color tyrosine melanin albinism

19. AP Biology OCA1 albinoBianca Knowlton

20. AP Biology Sex linked traits  Genes are on sex chromosomes  as opposed to autosomal chromosomes  first discovered by T.H. Morgan at Columbia U.  Drosophila breeding  good genetic subject  prolific  2 week generations  4 pairs of chromosomes  XX=female, XY=male 1910 | 1933

21. AP Biology autosomal chromosomes sex chromosomes Classes of chromosomes

22. AP Biology F 2 generation 100% red-eye female 50% red-eye male 50% white eye male Discovery of sex linkage P X F 1 generation (hybrids) 100% red eye offspring true-breeding white-eye male true-breeding red-eye female

23. AP Biology RRrr What’s up with Morgan’s flies? x rr R R Rr 100% red eyes Rr x Rr R r RR Rrrr Rr 3 red : 1 white Doesn’t work this way!

24. AP Biology  In humans & other mammals, there are 2 sex chromosomes: X & Y  2 X chromosomes  develop as a female: XX  gene redundancy, like autosomal chromosomes  an X & Y chromosome  develop as a male: XY  no redundancy Genetics of Sex 50% female : 50% male

25. AP Biology _____ What’s up with Morgan’s flies? x ____ 100% red eyes ____ _____ x ____ _____ 100% red females 50% red males; 50% white males

26. AP Biology Genes on sex chromosomes  Y chromosome  few genes other than SRY  sex-determining region  master regulator for maleness  turns on genes for production of male hormones  many effects = pleiotropy!  X chromosome  other traits beyond sex determination  mutations:  hemophilia  Duchenne muscular dystrophy  color-blindness

27. AP Biology  Sex-linked  usually means “X-linked”  more than 60 diseases traced to genes on X chromosome Human X chromosome

28. AP Biology Map of Human Y chromosome? < 30 genes on Y chromosome Sex-determining Region Y ( SRY ) Channeling Flipping ( FLP ) Catching & Throwing ( BLZ-1) Self confidence ( BLZ-2) note: not linked to ability gene Devotion to sports ( BUD-E) Addiction to death & destruction movies ( SAW-2) Scratching ( ITCH-E) Spitting ( P2E) linked Inability to express affection over phone ( ME-2) Selective hearing loss ( HUH) Total lack of recall for dates ( OOPS) Air guitar ( RIF)

29. AP Biology Sex-linked traits summary  X-linked  follow the X chromosomes  males get their X from their mother  trait is never passed from father to son  Y-linked  very few genes / traits  trait is only passed from father to son  females cannot inherit trait

30. AP Biology

32. Hemophilia Hh x HH sex-linked recessive ___ male / sperm ___ female / eggs carrierdisease

33. AP Biology X-inactivation  Female mammals inherit 2 X chromosomes  one X becomes inactivated during embryonic development  condenses into compact object = Barr body  which X becomes Barr body is random  patchwork trait = “mosaic” XHXhXHXh XHXHXhXh

34. AP Biology X-inactivation & tortoise shell cat  2 different cell lines in cat

35. AP Biology Male pattern baldness  Sex influenced trait  autosomal trait influenced by sex hormones  age effect as well = onset after 30 years old  dominant in males & recessive in females  B_ = bald in males; bb = bald in females

36. AP Biology Epistasis in grain color 9/16 purple 7/16 white F 1 generation All purple (AaBb) X Eggs White (aaBB) White (AAbb) F 2 generation A = enzyme 1 + B = enzyme 2  purple color (anthocyanin) AB AbaBab Ab aB ab AABB AABb AaBB AaBb AABb AAbb AaBb Aabb AaBB AaBb aaBB aaBb AaBb Aabb aaBb aabb Sperm 9:7 9:3:3:1