bio exam 4 chap 11-13

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blending concept of inheritance

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1

blending concept of inheritance

cross between plants with red flowers and plants with white flowers would yield only pink flowers

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particulate theory of inheritance

based on the existence of minute particles (genes), allowed Mendel to propose law of segregation and law of independent assortment

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true breeding

self fertilization produces offspring identical to parent

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monohybrid cross

parent plants differ in one character

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law of segregation

four hypothesis: alleles are genes found in alternate versions responsible for variation, organism inherits two alleles (one from each parent), if alleles differ one determines the organism’s appearance (phenotype), genes in a pair segregate during meiosis and each sperm or egg receives only one member of the pair

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Punnett squares

visual representation used to calculate the expected results of simple genetic crosses

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locus

physical location of a trait or gene on a chromosome

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alleles

alternate versions of a gene

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dominant allele

masks the expression of the recessive allele

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homozygous

has two identical alleles

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heterozygous

two different alleles at locus

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dihybrid cross

cross between two individuals with two different observed traits, F2 generation 9:3:3:1 ratio

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law of independent assortment

each pair of alleles separates independently of all other pairs during gamete formation, only applies to alleles of traits on different chromosomes

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testcross

cross between an individual with dominant phenotype and individual with recessive phenotype to determine if the dominant individual is homozygous or heterozygous

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autosome

any chromosome that is not a sex chromosome

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carriers

no abnormality but can pass allele for recessively inherited genetic disorder

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rule of multiplication

multiply probabilities of events that must occur together

ex: probability of rolling a 6 then rolling a 5 -→ 1/6 * 1/6= 1/36

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rule of addition

add probabilities of events that can happen in different ways

ex: probability of rolling either a 5 or a 6 -→ 1/6 + 1/6=2/6 or 1/3

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19

pedigree

graphical representation of inheritance patterns of a single trait in families

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examples of autosomal recessive disorders

methemoglobinemia, cystic fibrosis, phenylketonuria

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examples of autosomal dominant disorders

osteogenesis imperfecta, huntington disease, hereditary spherocytosis

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multiple alleles

gene exists in several allelic forms within a population, ex: ABO blood group

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codominance

both alleles of gene are expressed equally in heterozygote, ex: AB blood type

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complete dominance

one allele is dominant over the other, dominant allele determines phenotype

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incomplete dominance

when heterozygote has intermediate phenotype between that of either homozygote

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pleiotropy

when a single mutant gene affects two or more distinct unrelated traits (one gene influences many characteristics) ex: hemoglobin because it affects the shape of the cell and the type of hemoglobin produced

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polygenic inheritance

trait is governed by two or more sets of alleles (many genes influence one trait), ex: eye color, skin color

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epistatic interaction

when one gene can override another

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law of segregation in meiosis

separation of homologous chromosomes in anaphase I

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law of independent assortment in meiosis

alternative orientation of chromosomes in metaphase I

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linked genes

located close together on the same chromosomes, tend to be inherited together

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genetic maps

shows orders of genes on chromosome, arrange genes into linkage groups representing individual chromosomes

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XX

female

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XY

male

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sex linked genes

located on either of the sex chromosomes

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X linked genes

passed from mother to son and mother to daughter or father to daughter ex: color blindness, Menkes syndrome, muscular dystrophy, adrenoleukodystrophy

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Y linked genes

passed from father to son

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hemizygous

male posses only one allele for gene on X chromosome

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nucleotides

deoxyribose sugar, phosphorus group, nitrogenous base (A, T, C, G)

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covalent/phosphodiester

bonds to link nitrogenous bases

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two hydrogen bonds

adenine and thymine

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three hydrogen bonds

cytosine and guanine

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hydrogen

bonds between complementary nitrogenous bases

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purine

adenine and guanine, double ring

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pyrimidine

thymine and cytosine, single ring

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semiconservative

two double helix molecules each with one parental and one new strand

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origins of replication

where DNA replication begins, produces bubble, proceeds in bith directions, ends when products from bubbles merge with each other

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DNA helicase

unzips double stranded DNA to single strands by breaking H bonds

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single strand binding proteins

bind to single stranded DNA and prevents it from reforming double helix during replication

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DNA primase

synthesizes short RNA primers

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DNA polymerase

synthesizes DNA in leading and lagging strands, removes RNA primers, fills gaps with more DNA, proofreads newly made DNA

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polymerases

place complementary nucleotides in fork

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DNA ligase

covalently attaches adjacent Okazaki fragments in lagging strand

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antiparallel (opposite)

orientation of DNA strands/phosphate sugar backbone

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3’ end

hydroxyl group attached to deoxyribose

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5’ end

phosphate group attached to deoxyribose

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5’-3’

direction DNA replication occurs

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continuous

replication on 3’-5’ template

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discontinuous

replication on 5’-3’ template, short segments

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3’ end

end DNA polymerase adds nucleotides to

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leading strand

exposed so synthesis in 5’-3’ direction is easier, replication is continuous, requires formation of single primer

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lagging strand

has to be opposite direction so DNA polymerase synthesizes new strand in short 5’-3’ segments with periodic starts and stops, joined by DNA ligase, requires formation of new primer at start of each Okazaki fragment

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primer

short segment of RNA

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primase (RNA polymerase)

links ribonucleotides that are complementary to DNA template into primer

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repair enzymes

uses visible light to break covalent bonds between bases that occur because of exposure to UV light

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telomeres

end of eukaryotic chromosomal DNA, protect genes from being eroded through multiple rounds of replication

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telomerase

uses short molecule of RNA as template to extend 3' end of telomere, lengthens telomere

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prokaryotic DNA replication

one specific origin of replication site

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eukaryotic DNA replication

numerous origins of replication, replication fork, takes longer to replicate but multiple origins speeds it up, linear chromosomes that make DNA polymerase unable to replicate ends of chromosomes (composed of telomeres)

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one gene one enzyme hypothesis

based on studies of inherited metabolic diseases

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one gene one protein hypothesis

expands the relationship to proteins other than enzymes

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one gene one polypeptide hypothesis

recognizes that some proteins are composed of multiple polypeptides DNA genotype is expressed as proteins

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mRNA

takes message from DNA in nucleus to ribosomes in cytoplasm

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tRNA

transfers amino acids to ribosomes, matches amino acids to corresponding mRNA codon

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rRNA

makes up ribosomes where polypeptides are synthesized

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transcription

from DNA nucleotide language to RNA nucleotide language, DNA to mRNA/tRNA/rRNA

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translation

from nucleotide language to protein language, mRNA is read by ribosome and converted to sequence of amino acids in polypeptide

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central dogma

process that dictates flow of information from DNA to RNA to protein

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genetic code

allows for conversion of DNA/RNA chemical code to sequence of amino acids in protein

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codon

three base sequence in mRNA during translation directs addition of particular amino acids into protein or directs termination of process

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redundant

more than one codon for some amino acids

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unambiguous

any codon for one amino acid doesn’t code for any other amino acid

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RNA polymerase

moves along the template strand in 5’ direction, adds nucleotide only to 3’ end

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promoter

defines start and direction of transcription, RNA polymerases attaches to it

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initiation transcription

RNA polymerase binds to promoter, helix unwinds and transcription starts

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elongation transcription

RNA nucleotides added to chain

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termination

RNA polymerase reaches terminator sequence and detaches from template

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exons

sequence of mRNA with protein coding regions

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introns

internal, segment of mRNA with no protein coding regions

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cap

added to 5’ end, single guanine nucleotide, protects RNA from cellular enzymes

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poly A tail

added to 3’ end, tail of 50-250 adenines, protects RNA from cellular enzymes

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RNA splicing

removal of introns and joining of exons to produce continuous coding sequence

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initiation translation

brings together components needed to begin protein synthesis

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elongation translation

addition of amino acids to polypeptide chain

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termination translation

polypeptide is released

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anticodon

group of 3 bases complementary and antiparallel to mRNA codon

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ribosomal subunits

small and large, have binding sites for mRNA and 3 for tRNA

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small ribosomal subunit

binds to mRNA, an initiator tRNA pairs with the mRNA start codon AUG

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large ribosomal subunit

completes the ribosome, initiator tRNA occupies the P site, A site is ready for the next tRNA

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E site

exit site

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