ant202 test 1

Evolution

the change in the heritable traits of biological populations over successive generations

Lamarck

Inheritance of Acquired Traits

Linnaeus

Taxonomy & binomial classification

Cuvier

Catastrophism & Comparative Analysis

Darwin & Wallace

Which 2 individuals “co-discovered” the theory of evolution by natural selection?

Fossil Record

Armadillo; Glyptodont

Retention of Ancestral Characteristic

Pelvis bone in whale

Comparison of living organisms

Homologous structures (arm bones in human, horse, bird, bat, seal, turtle) or DNA sequence (cytochrome c)

Direct observations of microevolution

Darwin’s Finches and Rock Rocket Mouse

Aristotle

Scala Naturae (Great Chain of Being)

Al-Jahiz

Described over 350 species, introduced the idea of biological evolution

Ibn Al-Haytham

Pioneer of modern scientific method

Lyell

Uniformitarianism

Hutton

Rocks and Strata

Malthus

Carrying Capacity

Weismann

Mouse experiment to contradict Lamarck’s theory

Bacon

First codified the scientific method

Watson and Crick

Who was responsible for deciphering the structure of DNA in 1953?

a nitrogenous base, a five-carbon sugar, and a phosphate group

What are the 3 primary components of a nucleotide?

Purines

Adenine & Guanine

Pyrimidines

Cytosine, Thymine, Uracil

Adenine, thymine/uracil

2 hydrogen bonds

Guanine & Cytosine

3 hydrogen bonds

Phosphodiester Bonds

link adjacent nucleotides together by connecting the 3’ hydroxyl group of one sugar to the 5’ phosphate group of the next.

antiparallel, complementary

In the double helix structure of DNA the two strands are ____________ and ____________.

semiconservative

each newly formed DNA double helix contains one original parental strand and one newly synthesized complementary strand

Initiation, elongation, termination

What are the three steps of DNA replication?

Helicase

breaks the hydrogen bonds between the base pairs, unzipping the two strands and forming a Y-shaped replication fork.

Primase

adds a short piece of RNA (a primer) to serve as a starting point for the copying process

DNA Polymerase

moves along the template strand, continuously adding complementary nucleotides in the 5' to 3' direction

Exonuclease

remove all the RNA primers from both strands.

DNA ligase

glues together the Okazaki fragments and any remaining nicks, creating two complete, identical double-helix DNA molecules

Carbohydrates, proteins, lipids and nucleic acids

What are the 4 basic types of molecules that all organisms are composed of?

microtubule

acts as a structural rod that forms part of the cell's cytoskeleton

centriole

anchor and build microtubules.

Nucleolus

It transcribes ribosomal RNA (rRNA) from DNA and combines it with proteins to form the large and small subunits of ribosomes.

Ribosomes

act as the cell's protein factories, translating messenger RNA (mRNA) instructions into functional proteins.

Histones

package, organize, and regulate long strands of DNA inside eukaryotic cell nuclei

23 pairs of chromosomes, for a total of 46

How many pairs of chromosomes do human body cells have? How many chromosomes in total in each cell’s nucleus?

Centromere

The constricted, specialized region of a chromosome where two sister chromatids are joined together.

Telomere

The protective cap or terminal region located at the very ends of a linear chromosome.

Haploid Cells (n)

Contains only one complete set of chromosomes

Diploid Cells (2n)

Contains two complete sets of chromosomes — one set from each biological parent.

Gametogenesis

What is the term for the production of gametes?

Aneuploidy

a cellular condition where a cell has an abnormal number of chromosomes because it is missing a chromosome or has an extra one, rather than having a complete set

Chromosome 21

Down Syndrome is the result of a trisomy in which chromosome?

Hemoglobin

an iron-containing protein in red blood cells that transports oxygen from the lungs to the body's tissues and helps return carbon dioxide back to the lungs

Transcription

Gene expression

Translation

Protein synthesis

Nucleus

Where does transcription occur?

Cytoplasm, on ribosomes

Where does translation occur?

Alternative Splicing

a regulated cellular process during gene expression where exons from the same pre-mRNA are joined in different combinations

mRNA

carries information about the sequence of a protein by encoding amino acids

tRNA

bind to specific codons on the mRNA template and add the corresponding amino acid to the polypeptide chain.

rRNA

acts as the building blocks of ribosomes.

64

Number of possible codons

degenerate/redundant

Most of the amino acids are represented by more than one codon – permitted some mistakes in the third position but not causing harm to the organism; another way of saying this is that the genetic code is _______________

Prophase, metaphase, anaphase, telophase, cytokinesis

Stages of mitosis

2 diploid

How many daughter cells are produced at the end of mitosis?

4 haploid

How many daughter cells are produced by the process of meiosis?

Mendel’s Law of Segregation

allele pairs separate during the formation of gametes (sperm and egg cells), so that each gamete receives only one allele for each gene

Mendel’s Law of Independent Assortment

the alleles of two or more different genes sort into gametes independently of one another

Complete Dominance

One allele masks the effect of the other allele in a heterozygous individual

Incomplete Dominance

Neither allele is completely dominant over the other (blend) (e.g. Snapdragon flowers)

Codominance

Both alleles are fully, equally and independently expressed at the same time in the heterozygote (side-by-side) (e.g. ABO blood groups)

Anaphase I

Which point of meiosis corresponds to Mendel’s Law of Segregation?

Metaphase I

Which point of meiosis corresponds to Mendel’s Law of Independent Assortment?

Linkage Disequilibrium

The non-random association of alleles (gene variants) at different loci within a population. It occurs when the observed frequency of a particular combination of alleles (a haplotype) is higher or lower than what you would expect if the alleles were inherited completely independently by chance

Law of Independent Assortment

Which of Mendel’s laws is linkage disequilibrium an exception to?

50-100%

Affected individuals have a __________ percent chance of transmitting the trait

one affected

Affected individuals must have __________________ parent

Familial breast cancer, familial Alzeimer’s disease, Huntington’s disease

Examples of Autosomal Dominant Disorders

25%

There is a ________ chance that the offspring of two carriers will be affected

Cystic fibrosis, Tay-Sachs Disease, Sickle Cell Anemia

Examples of autosomal recessive disorders?

Hemizygous, homozygous

____________________ males and ___________________ females affected

Mother

Affected males have inherited their recessive alleles from their _____________

Hemophilia A and B, Fragile-X syndrome

Examples of X-Linked Recessive disorders

Hemophilia B

What X-Linked recessive disorder did Queen Victoria have?

Hereditary hearing loss, vitamin D resistancy rickets

Examples of X-Linked Dominant Disorders

Simple Mendelian Inheritance

Only one gene influence

Polygenic inheritance

Continuous variance in traits (e.g. height, skin pigmentation, hair and eye colour)

Landsteiner

Who discovered ABO blood groups?

Blood Cell Surface Antigens

specific sugar or protein molecules located on the outer membrane of blood cells that act as chemical markers to help the immune system distinguish "self" from "foreign" material

Penetrance

the proportion or percentage of individuals who carry a specific gene variant (genotype) and also express the associated physical trait or medical condition (phenotype)

Berg

Who contributed to recombinant DNA

Sanger

Who contributed to DNA sequencing methods

Dideoxynucleotide

modified nucleotide molecules that lack both the 2' and 3' hydroxyl (-OH) groups on their ribose sugar ring

The Human Genome Project

an international scientific effort launched in October 1990 and completed in April 2003 to map and sequence all of the DNA in the human genome

Sanger Sequencing

What sequencing method did the Human Genome Project use?

Celera Genomics

What company was in a race with the Human Genome Project for publication?

February 12, 2001

When was the first draft of the human genome published?

April 1, 2022

When was the first complete sequence published?

Telomere-to-Telomere (T2T)

Name of the corsortium?

3 billion

How many nucleotides in human?

19k

How many genes in human?

~2%

Approximately what percentage of the human genome is actually protein-coding?

Transposon-Derived Repeats

repetitive DNA sequences originating from transposable elements (TEs)—often called "jumping genes"—that make up roughly 45% to 50% of the human genome.

Simple Sequence Repeats

short tracts of DNA (1 to 6 base pairs long) repeated in tandem multiple times within a genome (perfect or slightly imperfect) (3%)

Segmental Duplications

large blocks of DNA (typically greater than 1 kilobase [kb] to over 100 kb) that share high sequence identity (usually over 90% to 99%) and appear in two or more locations within a genome (3%)