7.1 Chromosomes and Phenotype Two copies of each autosomal gene affect phenotype (physical). Mendel studied autosomal gene traits, like hair texture. Autosome – chromosome with genes not related to sex of organism (body cells) Compared to: Sex Chromosomes: control the development of sexual characteristics

7.1 Chromosomes and Phenotype Carrier – has an allele for a trait or disease that is not expressed. Carrier does not have disease symptoms but can pass it on to offspring. Does not have disorder (dominant) Dominant allele disorders are rare. Huntington’s disease is an example of a disease caused by a dominant allele. Has disorder

7.1 Chromosomes and Phenotype Genes on sex chromosomes are called sex-linked genes. Y chromosome - male characteristics . X chromosome - genes affects many traits. . Males can pass on X or Y Females only pass on X

7.1 Chromosomes and Phenotype Who determines the sex of the offspring? FATHER Father – he can provide an X or Y chromosome Egg X X X XX XX XY XX X X Body Cell X XY Y Y Sperm Body Cell 1female:1male

7.1 Chromosomes and Phenotype How are sex-linked genes expressed differently in phenotypes of males & females? Males have an XY genotype; therefore... All of a male’s sex-linked genes are expressed. Males have no second copies of sex-linked genes to mask the effects of another allele. Therefore, you will see sex linked genetic disorders more often in males than females. Y chromosome is much smaller

7.1 Chromosomes and Phenotype Females have an XX genotype. X chromosome inactivation -randomly “turns off” one X chromosome. Why are males more likely than females to have sex-linked genetic disorders? All sex-linked genes are expressed in males, even recessive. Females have a backup X chromosome which can mask genetic disorders.

7.1 Chromosomes and Phenotype Page 203 Can you explain what is going on in this picture? Why is there a color variation between the female & male calico cats? The female calico cats have two chromosomes with different alleles for fur color. Both alleles are expressed in a random pattern. The male cat has only one X chromosome, and it’s allele for fur color is expressed across the entire body. Xº = Orange fur Xº = Black fur allele

Complex Patterns of Inheritance Color blindness is a problem in which red or green look like shades of gray or other colors. The gene is carried on the X chromosome and is a recessive trait. XC Xc XCXC XCXc XCY XcY XC XCXC = normal female XCXc = female, normal vision (carrier) XCY = normal vision male XcY = color blind male Y Neither female are colorblind – 1 female is a carrier however 1 male born normal & 1 male born colorblind

7.2 Complex Patterns of Inheritance Some traits are neither totally dominant nor totally recessive. Incomplete dominance - when neither gene/allele is completely dominant nor completely recessive to the other - Heterozygous phenotype is intermediate between the two homozygous phenotypes Example: White flowers and red flowers produce pink flowers

Codominance RR RR’ R’R’ R = Round blood cells R’ = Sickle Cells When both alleles of a gene are expressed- neither is dominant or recessive Sickle Cell Anemia R = Round blood cells R’ = Sickle Cells Disease in which the body makes sickle-shaped red blood cells. Sickle-shaped cells don’t move easily through your blood vessels. They’re stiff and sticky and tend to form clumps and get stuck in the blood vessels . R R’ RR RR’ R’R’ R RR = normal blood RR’ = some sickle cells, some normal cells R’R’ = has sickle cell anemia R’

Complex Patterns of Inheritance Codominant - alleles will both be completely expressed. Example – red and white flower produce a flower with BOTH colors Codominant alleles are neither dominant nor recessive. The ABO blood types result from codominant alleles. Many genes have more than two alleles.

Complex Patterns of Inheritance Polygenic traits are produced by two or more genes. Order of dominance: brown > green > blue.

7.2 Complex Patterns of Inheritance Epistatic gene - can interfere with the expression of all other genes. Mice have 5 genes that control fur color. 2 genes for general color 1 for shading 1 for spots 1 epistatic gene for color that overrules all other genes

7.2 Complex Patterns of Inheritance Phenotype is a combination of genotype and environment. The sex of sea turtles depends on both genes and the environment. Warm eggs develop into females Height is an example of a phenotype strongly affected by the environmental factors such as early nutrition and health care.

7.3 Gene Linkage and Mapping Gene linkage was explained through fruit flies. (b/c could quickly and cheaply grow new generations) Morgan found that linked traits are on the same chromosome. Traits can be inherited as a group. Chromosomes, not genes, assort independently during meiosis. Wild type Mutant Common phenotype Different phenotype

Famous Scientist Punnett & Bateson said: (invented the punnett square) Suggested some genes are linked together Morgan said: Chromosomes, not genes assort independently. Mendel said: Genes assort independently of one another. Sturtevant (Morgan’s student) said: frequency of cross- overs was related to the distance bw genes.

Gene Linkage and Mapping Linked genes are not inherited together every time. Gene linkage: the tendency: for genes located close together on a chromosome to be inherited together. Chromosomes exchange homologous genes during meiosis. Genes Close together

7.3 Gene Linkage and Mapping Linkage maps – map of location of genes on a chromosome. The closer together two genes are, the more likely they will be inherited together. Cross-over frequencies are related to distances between genes. How frequently a cross over will occur is related to the distance bw the genes!

Gene Linkage and Mapping Cross-over frequencies can be converted into map units. gene A and gene B cross over 6.0 percent of the time gene B and gene C cross over 12.5 percent of the time gene A and gene C cross over 18.5 percent of the time

Study Guide worksheet page 44 Linkage Map 7.3 Cross-Over Frequencies: A-B 20% B-C 5% A-C 25% A-D 7% D-B 13% 20-7=13 D-C 18% 25-7=18 A D B C 7 20 25

7.4 Human Genetics and Pedigrees Human genetics follows the patterns seen in other organisms. The basic principles of genetics are the same in all sexually reproducing organisms. Inheritance of many human traits is complex. Single-gene traits are important in understanding human genetics.

Gene Linkage and Mapping Females can carry sex-linked genetic disorders. Males (XY) express all of their sex linked genes. Expression of the disorder depends on which parent carries the allele and the sex of the child. X chromosome carries about 1100 genes while the Y carries about 250

Gene Linkage and Mapping Pedigree - chart used for tracing genes in a family. Phenotypes are used to infer genotypes on a pedigree. Autosomal genes show different patterns on a pedigree than sex-linked genes. How can you tell if a chromosome is a autosome or a sex chromosome? If the same # of male & female have the phenotype then the gene is most likely autosome. Widow’s peak: W = widow’s peak w = non widow’s peak

Gene Linkage and Mapping If the phenotype is more common in males, the gene is likely sex-linked. Colorblindness: M = normal vision m = colorblindness

Gene Linkage and Mapping Several methods help map human chromosomes. Karyotype - a picture of all chromosomes in a cell. Shows changes in chromosomes. Ex: if you have an extra chromosome X Y Two methods used to study human chromosomes: 1.Pedigrees 2. Karyotypes

Gene Linkage and Mapping Karyotypes can show changes in chromosomes. deletion of part of a chromosome or loss of a chromosome large changes in chromosomes extra chromosomes or duplication of part of a chromosome