Chapter 15: The Chromosomal Basis of Inheritance

Word Roots: aneu- = without cyto- = cell hemo- = blood mono- = one non- = not Nondisjunction an accident of mitosis or meiosis in which both members of a homologous chromosomes or both sister chromatids fail to move apart. trans- = across tri- = three soma- = body

dis- = separate
poly- = many re- = again com- = together bin- = two at a time

Recombinant an offspring whose phenotype differs from that of the parents.

Thomas Hunt Morgan Drosophila melanogaster

Fruit Fly Small

Rapid reproduction
Multiple offspring Controllable mating 4 Chromosome pairs 3 autosome pairs

1 sex chromosome pair

www.chem.rochester.edu

Support for the Chromosomal Theory of Inheritance

Eye color experiment Wild type red eyes w+

Mutant white eyes w

Correlation between trait and chromosome Discriminate between autosomal and sexlinked inheritance Provided support for Mendelian inheritance

Linked Genes Inherited Together

Linked genes Parental

Recombinant
Genetic recombination Recombinant frequency 50% - unlinked Independent assortment < 50% - linked Non-independent assortment

Recombination of Linked Genes Crossing Over

Crossing over Recombinant frequency

# recombinants/total offspring x 100%

Close to 50% many cross overs Genes far apart Far from 50% - few cross overs Genes close together

Linkage Mapping
Alfred H. Sturtevant Genetic map

Crossing over is random

Genes far apart more crossing over

Genes close together less crossing over

Linkage Map

Map units 1unit = 1%

centimorgans

 Physically linked but genetically unlinked Far apart on chromosome

Map - add recombinant frequencies of other traits in between

Further evidence for chromosomal inheritance 4 groups of linkages 4 chromosomes Cytogenetic maps Chromosomal features

Sequence maps
Nucleotide sequences

Sex-linked Genes

X0 system XX female

X0 male
Z-W system ZW female

ZZ male
Haplo-diploid system Diploid female Haploid - male

Sexual Anatomy
Sexually amorphic embryo Hormones control physical outcomes Y-chromosome SRY gene

Protein transcription factor for other genes

Sex-linked gene

X-linked gene

Sex-linked Disorders
Duchenne Muscular Distrophy 1 in 3,500 males

Muscle weekness, loss of coordination, death by 20s

Hemophilia

18,000 in US (mostly males)

Prolonged bleeding Color blindness 8%-12% males; 1% females Differing ability to see color

X Inactivation
Barr Body Random for each cell Heterozygous carrier Some cells with disorder, others without XIST X-inactive specific transcript

Mary Lyon
Mosaic

Alteration of Chromosome Number

Nondisjunction Anaphase I and II Aneuploidy

Trisomic
Monosomic Nondisjunction Anaphase Zygote development Polyploidy

Triploidy
Tetraploidy Common in plants

www.bbc.co.uk

www.cricyt.edu.ar

Alterations of Chromosome Structure

Deletion lost chromosomal fragment Duplication lost fragment attached to sister chromatid

Inversion reattachment of fragment backwards

Translocation fragment joins non-homologous chromosome

Human Disorders due to Chromosomal Alterations

Frequency of aneuploid Spontaneous abortion

Syndrome
Diagnosis before birth Amniocentesis

Chorionic Villus Sampling

www.genetics.com.au

Trisomy 21 Down Syndrome

1 in 700 Characteristic facial features Short stature Heart defects Increased respiratory infection

Mental retardation
Prone to: Leukemia Alzheimers

Kleinfelter Syndrome
XXY 1 in 2,000 Male Small testes Sterile

Breast enlargment
Normal intellegence

www.aafp.org

www.tokyo-med.ac.jp

XYY Super Male

Taller Increases aggression

Reduced IQ

Trisomy X
1 in 1,000 No distinguishing characteristics

bb.westernu.edu

Monosomy X - Turner Syndrome

1 in 5,000 Only known monosomy Sterile Treatment hormone replacement

Disorders Caused by Structurally Altered Chromosomes

Cri du chat Deletion in chromosome 5 Mental retardation Small head, unusual facial features Distressed cat cry

Death in infancy

Chronic Myelogenous Leukemia

Reciprocal translocation
9 and 22 Philadelphia chromosome

Genomic Imprinting
Gene expression Dependent on parent Occurs during gamete formation Transmitted to all body cells Consistent through generations Methylation Inactivation

Activation
Igf2

Insulin-like growth factor Igf2

Pn Mn wild type Pn Mm wildtype Pm Mn - dwarf

Extranuclear Genes
Maternal inheritance Mitochondria ETC and ATP synthase Mitochondrial myopathy Energy deprivation in muscles and nerves

Diabetes
Heart disease Plastids Variegation of leaves