Exam I (Genomic IP5)

regulatory domains

genes have ____________ ____________ such as promotors and enhancers

transcribed

DNA is (translated/transcribed) into RNA

spliced

RNA is ___________, or the introns are removed

translation

(transcription/translation) occurs when RNA is made into protein by ribosomes

transcription

process where DNA is used as a template to synthesize RNA

RNA

only known molecule to function both in the storage and transmission of genetic information and catalysis

uracil (not thymine as in DNA)

nitrogen base that pairs with adenine in RNA

both strands

replication, as opposed to transcription, uses (both strands/a single strand) as a template

replication

which process—replication or transcription—uses a primer?

DNA polymerase

main enzyme in the process of replication

RNA polymerase

main enzyme in the process of transcription

dsDNA

final product of replication

ssRNA

final product of transcription

true

true/false: proof reading occurs in both replication and transcription

codon

three letter code for an amino acid

sense codons

codons that are degenerate (many codons code for the same AA)

nonsense codon

codons that code for a stop codon (there are 3 of them)

AUG

translation starts at the codon _______

tRNA

codons are recognized by which molecules?

ribosome

the _____________ links all the amino acids together

primary structure

sequence of amino acids

secondary structure

structure of AA that includes the alpha helix and beta-pleated sheet

tertiary structure

3D shape of a polypeptide due to interactions of the R groups of the amino acids making up the chain

quaternary structure

the shape resulting from the association of two or more polypeptide subunits

phosphorylation

_____________ of molecules usually occurs for signaling pathways to start

acetylation

________________ of DNA and histones causes nucleosomes to loosen and spread apart; increases access to DNA and makes it more likely to be expressed

methylation

_______________ of DNA makes genes less likely to be expressed.

glycosylation

addition of carbohydrate groups to the membrane that allows for cell signaling

ubiquitylation

the targeting of molecules to be destroyed

degradation

ubiquitylation and sumolation are used for ________________ targeting

viruses

the repetitive DNA in our genome could come from _________ or errors in DNA replication

centromere

repetitive DNA makes up the entire structure of a _________________

microsatellite

a short, specific and repeating sequence of nucleotides (2-5 base pair motif repeated)

hypermutable

repetitive elements in our genome (i.e. tandem repeats) are ______________, meaning they are very prone to mutations

LINES

long interspersed nuclear elements (an interspersed repeat)

SINES

short interspersed nuclear elements (an interspersed repeat)

LTR retrotransposons

a type of retrotransposon that is derived from a virus and has long terminal repeats

interspersed repeats (LINES, SINES, LTR retrotransposons)

______________ ____________ can integrate into the genome and disrupt gene coding sequence or effect gene regulation/transcription

no (e.g. reverse transcriptase)

yes or no: is the central dogma always followed?

false (introns could be involved in splicing or gene regulating of exons)

true/false: mutations located in introns are never of any consequence

aneuploidy

an abnormal number of chromosomes; can be trisomy, monosomy, etc

mutation

any change in the arrangement of, or nucleotide sequence, in DNA

substitution

one nucleotide replaces another; could be synonymous (same codon produced), missense (changes AA), or nonsense (stop codon)

insertion

mutation that could cause the addition of an AA or a frameshift mutation

deletion

mutation that could cause the loss of an AA or a frameshift mutation

hot spots

regions with particularly high rates of mutation

lethal mutation

a mutation that severely impairs function and results in death of the organism

neutral mutation

mutation that has no impact on form or function

polymorphism

a neutral mutation that reaches a frequency of 1% in the population

loss of function

occurs when a gene doesn't produce enough protein (reduced or missing)

haploinsufficiency

the phenomenon in which a person has only a single functional copy of a gene, and that single functional copy does not produce a normal phenotype (i.e. 50% not sufficient)

loss of function

lamellar ichthyosis (skin thickening) and skull shape (the shortening of) is the result of ________ ____ ___________ in a gene

gain of function

occurs when a novel protein product is produced, or there is over-expression/inappropriate expression of a gene's product

dominant negative

refers to how one allele is enough to disrupt phenotype (e.g. in gains of function)

gain of function

preaxial polydactyly is an example of a ________ ___ ____________; results from mutations in the regulatory element that controls expression of sonic hedgehog

DCM (dilated cardiomyopathy)

also called round heart disease in turkeys; sudden death is caused by cardiac arrest & onset is within the first few weeks of life

troponin T

DCM in turkeys is caused by a deletion in intron 7 that causes skipping of exon 8 in the cardiac _____________ __ gene

dominant negative

incorporation of the mutant troponin T into the myofibrils negatively affects cardiac muscle contractility in turkeys with DCM; this is an example of a _____________ _____________

N

refers to the number of chromosomes found in gametes

2N (diploid)

the number of chromosomes found in somatic cells (e.g. 1N, 2N, 4N)

autosomes

non-sex chromosomes

sex chromosomes

typically X and Y (or W & Z in birds)

females

the (females/males) are homogametic XX in mammals

males

the (females/males) are homogametic ZZ in birds

M phase

The phase of the cell cycle that includes mitosis and cytokinesis

G1 phase

stage of interphase in which cell grows and performs its normal functions

S phase

the phase of the cell cycle where DNA is replicated

G2 phase

The phase of the cell cycle that involves growth and preparation for mitosis

interphase

part of the cell cycle that includes G1, S, and G2

sister chromatid

each arrow is pointing to one __________ ___________

centromere

area where the chromatids of a chromosome are attached

p arm

short arm of chromosome

q arm

long arm of chromosome

homologues

chromosomes that are given the same number, but are of opposite parental origin

metacentric

type of chromosomes in which the centromere in middle

submetacentric

type of chromosomes in which the centromere is slightly off center

acrocentric

type of chromosomes in which the centromere is located at the terminal end

karyotype

a display of the chromosome pairs of a cell arranged by increasing size and shape

BTA4

abbreviation that represents bovine chromosome number 4

CFA7

abbreviation that represents canine chromosome number 7

HSA8

abbreviation that represents human chromosome number 8

ECA2

abbreviation that represents horse chromosome number 2

FCA1

abbreviation that represents cat chromosome number 1

SSC9

abbreviation that represents pig chromosome number 9

crossing over

process in which homologous chromosomes exchange portions of their chromatids during meiosis; gives us a mixture of traits

haploid

chromosome number (n) in a gamete = 1N

diploid

chromosomes number (n) is a zygote = 2N

gene

basic unit of inheritance

allele

form/version of a gene

homozygous

both alleles are the same (AA or aa)

heterozygous

both alleles are different (Aa)

hemizygous

only 1 allele is possible (e.g. allele on X or Y chromosome in males)

false (you may only have 2 out of XXX, but there can be multiple forms of a gene you do not have)

true/false: there are only 2 alleles per gene in mammals

dominant

phenotype is seen in heterozygotes

recessive

phenotype is only expressed in homozygotes

incomplete dominance

pattern of inheritance in which there is a blended phenotype, a mix between the two alleles

codominance

a condition in which both alleles for a gene are fully expressed

genotype

genetic constitution or alleles present

phenotype

physical manifestation of a genotype + environment

incomplete penetrance

individual that has a gene but doesn't express the phenotype