Exam 1 (genomic IP5)

Genes have _______________ such as promotors and enhancers

regulatory domains

DNA is (translated or transcribed) into RNA

transcribed

RNA is ______, or the introns are removed

spliced

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

translation

Process where DNA is used as a template to synthesize RNA

Transcription

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

RNA

Nitrogen base that pairs with adenine in RNA

Uracil (not thymine as in DNA)

Replication, as opposed to transcription, uses (both strands or a single strand) as a template

both strands

Which process - replication or transcription- uses a primer?

Replication

Main enzyme in the process of replication

DNA polymerase

Main enzyme in the process of D

RNA polymerase

Final product of replication

dsDNA

Final product of transcription

ssRNA

T/F: proof reading occurs in both replication and transcription

True

Three letter code for an amino acid

Codon

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

sense codons

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

nonsense codon

Translation STARTS at the codon __________

AUG

Codons are recognized by which Molecules?

tRNA

The ______ links all the amino acids together

ribosome

Sequence of amino acids

primary structure

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

Secondary structure

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

Tertiary structure

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

Quaternary structure

___________ of molecules usually occurs for signaling pathways to start

phosphorylation

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

acetylation

_______ of DNA makes genes less likely to be expressed

methylation

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

glycosylation

the targeting of molecules to be destroyed

ubiquitylation

Umbiquitylation and sumolation are used for __________________ targeting

degradation

The repetitive DNA in our genome could come from _____ or errors in DNA replication

Viruses

Repetitive DNA makes up the entire structure of a _________

centromere

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

microsatellite

repetitive elements in our genome (tandem repeats) are _______________, meaning they are very prone to mutations

hypermutable

long interspersed nuclear elements (an interspersed repeat)

LINES

Short interspersed nuclear elements (an interspersed repeat)

SINES

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

LTR retrotransposons

_______________ can integrate into the genome and distrupt gene coding sequences or effect gene regulation/transcription

interspersed repeats (lines, sines, LTR retrotransposons)

yes or no: is the central dogma always followed?

no - reverse transcriptase

T/F: mutations located in introns are never of any consequence

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

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

aneuploidy

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

mutation

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

substitution

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

insertion

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

deletion

regions with particularly high rates of mutation

hot spots

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

lethal mutation

mutation that has no impact on form or function

neutral mutation

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

polymorphism

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

loss of function

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

haploinsufficiency

Lamellar ichthyosis (skin thickening) and skull shape (the shortening of) is the result of _____________ in a gene

loss of function

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

gain of function

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

dominant negative

Preaxial polydactyly is an example of a __________; results from mutations in the regulatory element that controls expression of sonic hedgehog

gain of function

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

DCM (dilated cardiomyopathy)

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

Troponin T

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

dominant negative

___ refers to the number of chromosomes found in gametes

N

the number of chromosomes found in somatic celsl (1N, 2N, 4N)

2N (diploid )

non-sex chromosomes

autosomes

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

sex chromsoomes

the (females or males) are homogametic XX in mammales

females

the females or males are homogametic ZZ in birds

males

the phase of the cell cycle that includes mitosis and cytokinesis

M phase

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

G1 phase

the phase of the cell cycle where DNA is replicated

S phase

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

G2 phase

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

interphase

area where the chromatids of a chromosome are attached

centromere

short arm of chromosome

p arm

long arm of chromosome

q arm

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

homologues

type of chromosomes in which the centromere is in the middle

metacentric

type of chromosomes in which centromere is slightly off center

submetacentric

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

acrocentric

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

karyotype

abbreviation that represents bovine chromosome number 4

BTA4

abbreviation that represents canine cromosome number 7

CFA7

abbreviation that represents human chromosome number 8

HSA8

abbreviation that represents horse chromosome number 2

ECA2

abbreviation that represents cat chromosome number 1

FCA1

abbreviation that represents pig chromosome 9

SSC9

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

crossing over

chromosome number (n) is a gamete = 1 N

haploid

chromosome number (n) is a zygote = 2N

diploid

basic unit of inheritance

gene

form/version of a gene

allele

both alleles are the same (AA or aa)

homozygous

both alleles are different (Aa)

heterozygous

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

hemizygous

T/F: there are only 2 alleles per gene in mammals

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

phenotype is seen in heterozygotes

dominant

phenotype only expressed in homozygotes

recessive

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

incomplete dominance

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

codominance

genetic constitution or alleles present

genotype

physical manifestation of a genotype + environment

phenotype

individual has a gene but doesn’t express the phenotype

incomplete penetrance

Refers to how individuals with the same genotype can have related phenotypes that vary in intensity

variable expressivity