Central Dogma and Human Genome
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What is the function of proteins?

  • They store information.
  • They carry out cellular functions. (correct)
  • They control the rate of chemical reactions.
  • They carry genetic information.

    • The central dogma of molecular biology describes the flow of genetic information from ______ to ______ to ______.

    DNA, RNA, protein

    What is the complete set of genetic material present in an organism called?

    Genome

    What percentage of the human genome is composed of protein-coding sequences (exons)?

    <p>~1.5%</p> Signup and view all the answers

    What percentage of the human genome is composed of repetitive DNA?

    <p>~59%</p> Signup and view all the answers

    What percentage of the human genome is composed of unique non-coding sequences?

    <p>~39%</p> Signup and view all the answers

    What percentage of the human genome is composed of unique non-coding sequences associated with genes?

    <p>~24%</p> Signup and view all the answers

    What percentage of the human genome is composed of unique non-coding sequences with unknown function?

    <p>~15%</p> Signup and view all the answers

    An individual's collection of alleles is known as their ______.

    <p>genotype</p> Signup and view all the answers

    A physical characteristic of an individual is known as their ______.

    <p>phenotype</p> Signup and view all the answers

    Regulatory sequences found immediately upstream of genes that help initiate transcription are known as ______.

    <p>promoters</p> Signup and view all the answers

    What is the DNA sequence that encodes a protein or functional RNA product called?

    <p>Coding region or exon</p> Signup and view all the answers

    What is the DNA sequence that does not encode a protein or a functional RNA product called?

    <p>Non-coding region or intron</p> Signup and view all the answers

    What type of gene is expressed in eukaryotes, with a single gene per mRNA transcript?

    <p>Monocistronic</p> Signup and view all the answers

    What type of gene is expressed in prokaryotes, with multiple genes per mRNA transcript?

    <p>Polycistronic</p> Signup and view all the answers

    Prokaryotes have linear DNA.

    <p>False (B)</p> Signup and view all the answers

    Human nuclear DNA is circular.

    <p>False (B)</p> Signup and view all the answers

    How does the size of the prokaryotic genome compare to the size of the human nuclear genome?

    <p>The prokaryotic genome is approximately 1/1000 the size of the human nuclear genome.</p> Signup and view all the answers

    Genes are ______ in the prokaryotic genome and ______ in the human nuclear genome.

    <p>densely arranged, sparsely arranged</p> Signup and view all the answers

    What type of DNA molecule is used for horizontal gene transfer in bacteria?

    <p>Plasmids</p> Signup and view all the answers

    Human nuclear genome is packaged with histones.

    <p>True (A)</p> Signup and view all the answers

    The human mitochondrial genome is circular and packaged with histones.

    <p>False (B)</p> Signup and view all the answers

    What is the name for short repeat sequences that occur one after another (head-to-tail)?

    <p>Tandem repeats</p> Signup and view all the answers

    What type of tandem repeat is found in centromeres and has a repeat length of 68-171 bp?

    <p>Satellite DNA</p> Signup and view all the answers

    What type of tandem repeat is found in telomeres and has a repeat length of 6-64 bp?

    <p>Mini-satellite DNA</p> Signup and view all the answers

    What type of tandem repeat has a repeat length of 2-4 bp?

    <p>Micro-satellite DNA</p> Signup and view all the answers

    Which tandem repeats are highly variable in length and are used for DNA fingerprinting?

    <p>Micro-satellite DNA (B)</p> Signup and view all the answers

    Longer repeat sequences that are distributed in different locations throughout the genome are known as ______.

    <p>Interspersed repeats</p> Signup and view all the answers

    Two types of interspersed repeats are ______ and ______.

    <p>LINEs, SINEs</p> Signup and view all the answers

    What are Alu elements classified as?

    <p>SINEs (B)</p> Signup and view all the answers

    What is the most abundant sequence in the human genome?

    <p>Alu elements</p> Signup and view all the answers

    What is the significance of Alu elements?

    <p>Alu elements can cause chromosomal abnormalities due to unequal crossing over.</p> Signup and view all the answers

    The human genome has ______ pairs of homologous chromosomes.

    <p>23</p> Signup and view all the answers

    The human genome has ______ pairs of autosomal chromosomes.

    <p>22</p> Signup and view all the answers

    The human genome has ______ pair(s) of sex chromosomes.

    <p>1</p> Signup and view all the answers

    Homologous chromosomes have the same gene order, but possibly different alleles.

    <p>True (A)</p> Signup and view all the answers

    Sister chromatids have the same gene order and identical DNA sequences.

    <p>True (A)</p> Signup and view all the answers

    The material which makes up chromosomes is known as ______.

    <p>chromatin</p> Signup and view all the answers

    The ends of chromosomes are known as ______.

    <p>telomeres</p> Signup and view all the answers

    What is the function of telomeres ?

    <p>They protect chromosomes from shortening. (A)</p> Signup and view all the answers

    What is the long arm of a chromosome called?

    <p>q-arm (B)</p> Signup and view all the answers

    The region where sister chromatids connect is known as the ______.

    <p>centromere</p> Signup and view all the answers

    The region in bacterial cells that contains the chromosome and is not enclosed by a membrane is called the ______.

    <p>nucleoid</p> Signup and view all the answers

    Which technique separates molecules based on their size and charge?

    <p>Gel electrophoresis (D)</p> Signup and view all the answers

    In gel electrophoresis, negatively charged molecules move towards the anode.

    <p>False (B)</p> Signup and view all the answers

    What is the name of the enzymes that digest DNA by cleaving phosphodiester bonds between nucleotides?

    <p>DNA nucleases</p> Signup and view all the answers

    What type of nuclease digests DNA from a free end?

    <p>Exonucleases (B)</p> Signup and view all the answers

    What type of nuclease digests DNA at an internal site?

    <p>Exonucleases (A)</p> Signup and view all the answers

    Restriction endonucleases cut DNA at specific ______.

    <p>restriction sites</p> Signup and view all the answers

    Restriction sites usually consist of ______ sequences and have a length of 4, 6, or 8 bp or longer (even numbers only).

    <p>palindromic</p> Signup and view all the answers

    Hybridization refers to the annealing of a ______ of DNA to a ______ of ______ DNA molecule.

    <p>single strand, complementary strand, another</p> Signup and view all the answers

    Stringency refers to:

    <p>The degree to which mismatches are tolerated in hybridization. (B)</p> Signup and view all the answers

    What are DNA sequence variants that result in an alteration of a genomic restriction fragment called?

    <p>Restriction fragment length polymorphisms (RFLPs)</p> Signup and view all the answers

    What are the three blotting methods?

    <p>Southern blotting, Northern blotting, and Western blotting</p> Signup and view all the answers

    Which blotting technique uses a DNA probe to detect specific DNA sequences?

    <p>Southern blotting (B)</p> Signup and view all the answers

    Which blotting technique uses antibodies to detect specific proteins?

    <p>Western blotting (C)</p> Signup and view all the answers

    What type of inheritance pattern is sickle cell disease?

    <p>Autosomal recessive (A)</p> Signup and view all the answers

    What is the specific mutation that causes sickle cell disease?

    <p>A point mutation in the HBB gene (encoding beta-globin) that results in the substitution of valine for glutamic acid at position 6.</p> Signup and view all the answers

    What are the 3 primary clinical features of sickle cell disease?

    <p>Hemolytic anemia, splenomegaly, and vascular occlusion in the form of a painful crisis</p> Signup and view all the answers

    What are the four treatment/management strategies for sickle cell disease?

    <p>Hydroxyurea, oxygen therapy, transfusions, and penicillin.</p> Signup and view all the answers

    Sickle cell trait occurs in ______ of the sickle mutation.

    <p>heterozygous carriers</p> Signup and view all the answers

    Sickle cell trait is mostly symptomatic.

    <p>False (B)</p> Signup and view all the answers

    Under which conditions can sickle cell trait become symptomatic?

    <p>All of the above (D)</p> Signup and view all the answers

    The cell cycle consists of ______, ______, ______, and ______ phases.

    <p>G1, S, G2, M</p> Signup and view all the answers

    What is the purpose of the G1 phase?

    <p>Growth and metabolism</p> Signup and view all the answers

    The ploidy number (n) during the cell cycle is ______.

    <p>2</p> Signup and view all the answers

    The value of DNA content number (c) during G1 phase is ______.

    <p>2</p> Signup and view all the answers

    What happens to the DNA content number (c) during the S phase?

    <p>It doubles.</p> Signup and view all the answers

    What happens to the DNA content number (c) during mitosis?

    <p>It halves.</p> Signup and view all the answers

    When entering mitosis from G2, the ploidy number (n) is ______ and the DNA content number (c) is ______.

    <p>2, 4</p> Signup and view all the answers

    Each homologous chromosome pair entering mitosis has one ______ and one ______ chromosome.

    <p>maternal, paternal</p> Signup and view all the answers

    Each chromosome entering mitosis has two ______.

    <p>identical sister chromatids</p> Signup and view all the answers

    What happens during mitosis?

    <p>Chromosomes are separated into two daughter nuclei, ensuring that each daughter cell receives one identical chromatid from each chromosome.</p> Signup and view all the answers

    After mitosis, the ploidy number (n) is ______ and the DNA content number (c) is ______.

    <p>2, 2</p> Signup and view all the answers

    What is the end result of mitosis?

    <p>Two genetically identical daughter cells</p> Signup and view all the answers

    What is the purpose of meiosis?

    <p>To generate haploid gametes.</p> Signup and view all the answers

    Meiosis occurs only in the ______.

    <p>germline</p> Signup and view all the answers

    Study Notes

    Central Dogma

    • DNA stores information
    • Transcription: DNA copied to mRNA sequence
    • mRNA carries information
    • Translation: mRNA information used to make proteins
    • Proteins carry out cellular functions

    Genome

    • Complete set of genetic material in an organism
    • Contains genes that code for proteins/RNAs
    • Structural, catalytic, or regulatory activities

    Human Genome Composition

    • Protein-coding (exons): ~1.5%
    • Repetitive DNA: ~59%
    • Unique non-coding sequences: ~39%
    • Unique non-coding sequences associated with genes (introns & regulatory sequences): ~24%
    • Unique non-coding sequences with unknown function: ~15%

    Genes

    • Code for one or more proteins/RNAs
    • Can have structural, catalytic, or regulatory functions
    • Some genes are monocistronic (encode one protein per gene)
    • Some genes are polycistronic (encode multiple proteins per gene)

    Regulatory Sequences

    • Promoters: immediately upstream of genes
    • Promoters are regulatory sequences
    • Regulatory sequences located immediately upstream of genes
    • Encodes proteins or functional RNA
    • Exons: coding sequences
    • Introns: non coding sequences that are interspersed between exons in mature mRNA sequences

    DNA Sequence Organization

    • Eukaryotic Genes - Monocistronic
    • prokaryotic gene - polycistronic
    • Eukaryotic Gene Structure: exons, introns, 5'UTR, 3'UTR , Promoter
    • Prokaryotic gene structure : 5'UTR, Promoter, Continuous Coding Region, 3'UTR
    • Prokaryotic DNA: circular
    • Human Nuclear DNA: linear
    • Gene arrangement in prokaryotic genome : dense , dense arrangement in prokaryotes and sparse arrangement in human genome
    • Gene arrangement in human genome is Linear DNA organized into discrete chromosomes
    • Human mitochondrial genome: circular, packaged without histones
    • Plasmids: independent replication, horizontal gene transfer, bacteria use as a supplemental genome
    • DNA information is copied to mRNA by transcription, then to proteins by translation
    • Satellite DNA-Centromere
    • Mini Satellite DNA - Telomeres

    Genome Size Comparison

    • Prokaryotic genome is significantly smaller than the human nuclear genome

    Gene Structure and Types

    • Satellite DNA Repeats: 68-171 bp (length); centromeres
    • Mini-satellite DNA Repeats: 6-64 bp (length); telomeres; highly variable total repeat size, polymorphic
    • Micro-satellite DNA Repeats (STRs): 2/3/4 bp (length), highly variable total repeat size, polymorphic

    DNA Fingerprinting and Allele Tracking

    • DNA markers created by comparing mini and micro satellite repeats can be used for identification
    • Some genes may be tandem repeats

    Telomeres

    • Specialized mini-satellite DNA sequences
    • At the ends of linear chromosomes
    • Related to the aging process

    Interspersed Repeats

    • Longer sequences distributed throughout the genome

    Types of Interspersed Repeats

    • LINES and SINES

    Gene Regulation

    • Blotting Methods: Southern Blotting, Northern Blotting, Western Blotting use gel electrophoresis to separate and identify specific DNA sequences
    • Gel electrophoresis separates DNA and RNA molecules based on their size or molecular weight

    Mutations and Significance

    • SNPs: single nucleotide polymorphisms which cause variation
    • RFLPs
    • Alu elements (SINES)

    Human Chromosome Organization

    • Autosomal chromosomes (22 pairs)
    • Sex chromosomes (1 pair)
    • Homologous chromosomes

    Cell Cycle

    • G1: growth and metabolism
    • S: DNA replication
    • G2: preparation for mitosis
    • Mitosis: cell division
    • Meiosis: formation of gametes
    • Ploidy number (n): 2 during all phases
    • DNA Content number (c)

    Meiosis

    • Formation of haploid gametes
    • Germline cells only
    • Meiosis I and II
    • Crossing-over in Prophase I
    • Homologous chromosome associations

    Oogenesis vs. Spermatogenesis

    • Oogenesis: begins during embryonic life, arrested at various stages

    Numerical Chromosomal Abnormalities

    • Polyploidy: changes in the number of complete chromosome sets (triploidy, tetraploidy)
    • Aneuploidy: changes in the number of individual chromosomes (monosomy, trisomy)

    Structural Chromosomal Abnormalities

    • Deletions/insertions
    • Duplications
    • Inversions
    • Translocations

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    Description

    Explore the fundamental concepts of the Central Dogma, including DNA, mRNA, and protein synthesis. Learn about the composition of the human genome and the roles of genes and regulatory sequences. This quiz will test your understanding of genetic information and its functional mechanisms.

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