Chromosomal inheritance Chapter 13 Genes and Development Fig.

Chromosomal inheritance Chapter 13 Genes and Development Fig.

Chromosomal inheritance Chapter 13 Genes and Development Fig. 13.1 Fig. 13.2a Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Parental generation male Parental generation female F1 progeny all had red eyes Fig. 13.2b Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. F1 generation male

F1 generation female F2 female progeny had red eyes, only males had white eyes Fig. 13.2c Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Testcross Parental generation male F1 generation female The testcross revealed that white-eyed females are viable. Therefore eye color is linked to the X chromosome and absent from the Y chromosome Fig. 13.2 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Parental generation male

Parental generation female F1 progeny all had red eyes F1 generation male F1 generation female F2 female progeny had red eyes, only males had white eyes Testcross Parental generation male F1 generation female The testcross revealed that white-eyed females are viable. Therefore eye color is linked to the X chromosome and absent from the Y chromosome

Page 241 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. X chromosome Y chromosome BioPhoto Associates/Photo Researchers, Inc. 2.8 m Sex determination Organism Humans (mammals) System Females Males Why males? XX/XY

XX XY Drosophila XX/XY XX XY SRY on Y One X, Y needed for fertility Birds, most reptiles ZW/ZZ ZW ZZ

Two Z Some insects XX/XO XX X One X Honey bees Haploid/Diploid Diploid Haploid One set of chromosomes Fig. 13.3 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Royal Hemophilia Pedigree George III Generation

Edward Duke of Kent Prince Albert I II III IV Queen victoria King Edward VII Frederick Victoria III No hemophilia German Royal House Alice

Duke of Hesse Helena Arthur Leopold Czar Nicholas II Czarina Alexandra Earl of Athlone Princess Alice King George VI

Earl of Mountbatten Waldemar Princess Diana Prince Philip Prince Charles Prussian Royal House Margaret Anne Andrew Prince Henry

Sigismond Anastasia Russian Royal House Viscount Tremation Leopold Queen Eugenie Henry Bettmann/Corbis Alfonso King of Spain ?

? Alfonso Jamie Juan Gonzalo ? King Juan Carlos No evidence of hemophilia No evidence of hemophilia Spanish Royal House British Royal House William ? ?

Edward Alexis Maurice ? ? Duke of Windsor Prince Henry Beatrice No hemophilia Irene Queen Elizabeth II

VII Alfred King George V V VI Louis II Grand Duke of Hesse Page 243 Barr body attached to the nuclear membrane Fig. 13.4 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Second gene causes patchy distribution of pigment: white fur = no pigment, orange or black fur = pigment

Allele for black fur is inactivated Allele for orange fur is inactivated X chromosome allele for orange fur X chromosome allele for black fur Inactivated X chromosome becomes Barr body Inactivated X chromosome becomes Barr body Nucleus Kenneth Mason Nucleus

Evidence for Homologous recombination Harriet Creighton and Barbara McClintock Maize genetics Fig. 13.5 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Parent generation F1 generation Meiosis with Crossing over Meiosis without Crossing over Crossing

over during prophase I No crossing over during prophase I Meiosis II Meiosis II Recombinant All parental Parental No recombinant Fig. 13.7 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. recessive allele (black body) dominant allele (gray body) recessive allele (vestigial wings)

dominant allele (normal wings) Using two-point crosses to map genes Parental generation Cross-fertilization F1 generation Testcross Testcross male gamete 415 parental wild type (gray body, long wing) F1 generation female possible gametes

92 recombinant (gray body, vestigial wing) 88 recombinant (black body, long wing) 405 parental mutant type (black body , vestigial wing) 180 1000 = 0.18 total recombinant offspring 18% recombinant frequency 18 cM between the two loci Genetic Mapping The distance between genes is proportional to the frequency of recombination events. recombination recombinant progeny =total progeny frequency 1% recombination = 1 map unit (m.u.) 1 map unit = 1 centimorgan (cM)

Genetic Mapping Multiple crossovers between 2 genes can reduce the perceived genetic distance Progeny resulting from an even number of crossovers look like parental offspring Fig. 13.9 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. A B C a b c A b

C a B c Parental Three-point testcrosses Recombinant Parental Fig. 13.10 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Ichthyosis, X-linked Placental steroid sulfatase deficiency Kallmann syndrome Chondrodysplasia punctata, X-linked recessive

Duchenne muscular dystrophy Becker muscular dystrophy Chronic granulomatous disease Retinitis pigmentosa-3 Norrie disease Retinitis pigmentosa-2 Hypophosphatemia Aicardi syndrome Hypomagnesemia, X-linked Ocular albinism Retinoschisis Adrenal hypoplasia Glycerol kinase deficiency Ornithine transcarbamylase deficiency Incontinentia pigmenti WiskottAldrich syndrome Menkes syndrome Androgen insensitivity Sideroblastic anemia AarskogScott syndrome PGK deficiency hemolytic anemia CharcotMarieTooth neuropathy

Choroideremia Cleft palate, X-linked Spastic paraplegia, X-linked, uncomplicated Deafness with stapes fixation PRPS-related gout Anhidrotic ectodermal dysplasia Agammaglobulinemia Kennedy disease PelizaeusMerzbacher disease Alport syndrome Fabry disease Immunodeficiency , X-linked, with hyper IgM Lymphoproliferative syndrome Albinismdeafness syndrome Fragile-X syndrome Human X chromosome gene map Lowe syndrome LeschNyhan syndrome HPRT-related gout Hunter syndrome Hemophilia B

Hemophilia A G6PD deficiency: favism Drug-sensitive anemia Chronic hemolytic anemia Manicdepressive illness, X-linked Colorblindness, (several forms) Dyskeratosis congenita TKCR syndrome Adrenoleukodystrophy Adrenomyeloneuropathy EmeryDreifuss muscular dystrophy Diabetes insipidus, renal Myotubular myopathy , X-linked Fig. 13.11 Sickle cell anemia Table 13.2 http://www.biotechnologyonline.gov.au/popups/img_karyotype.html http://www.cytogenetics.org.uk/careers/PIC7.JPG Normal human karyotypes

Abnormal human karyotype http://www.slh.wisc.edu/cytogenetics/cases/gifs/com_karyotypes/CoMNov97karyo.gif Fig. 13.12 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. 1 6 2 7 3 8 13 14

19 20 Abnormal human karyotype 4 9 15 21 10 16 22 5 11 17

X 12 18 Y Colorado Genetics Laboratory, University of Colorado Denver What happened here? Fig. 13.13 Incidence of Down Syndrome per 1000 Live Births Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. 25 20 15 10 5

0 20 25 30 35 Age of Mother 40 45 Down syndrome increases with the age of the mother Fig. 13.14 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Normal male X Triple X syndrome Female gametes undergo

nondisjunction Y Klinefelter syndrome XX XXX XXY XO OY O Turner syndrome Nonviable Fig. 13.15 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Uterus Amniotic fluid Hypodermic syringe Amniocentesis Fig. 13.16 Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Cells from the chorion Ultrasound device Uterus Suction tube Chorionic villi Chorionic villi sampling

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