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Questions and Answers

What is genomic imprinting?

  • Epigenetic silencing of one X chromosome in females.
  • Modification of DNA sequences through environmental factors.
  • Heritable changes in gene expression based on the parent of origin. (correct)
  • A type of recombinant DNA technology application.

Transgenerational effects through paramutation involve modifications to the DNA sequence.

False (B)

Name one application of recombinant DNA technology.

Gene Therapy

In female mammals, one X chromosome is epigenetically silenced in each cell to balance gene expression with ______.

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

Match the following concepts with their definitions:

<p>Restriction endonucleases = Enzymes that cut DNA at specific sites. DNA methylation patterns = Chemical modifications that can affect gene expression. Histone acetylation = Modification that increases gene expression. Recombinant DNA = DNA formed by combining genetic material from different sources.</p> Signup and view all the answers

What is the role of insulators in relation to enhancers?

<p>Insulators block interaction between enhancers and promoters. (C)</p> Signup and view all the answers

Repressors bind to enhancer regions to increase transcription.

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

What are the different functions provided by protein domains?

<p>DNA binding, activation, interaction with other proteins</p> Signup and view all the answers

The process that produces different mRNA isoforms from the same gene is called ______.

<p>alternative splicing</p> Signup and view all the answers

Match the RNA types to their characteristics:

<p>miRNA = Endogenous, imperfect base pairing, represses translation siRNA = Exogenous, perfect base pairing, cleaves target mRNA sncRNA = Regulates gene expression post-transcriptionally lncRNA = Regulates chromatin state and transcription</p> Signup and view all the answers

What initiates the recruitment of RNA polymerase II for transcription?

<p>Formation of a pre-initiation complex with general transcription factors (A)</p> Signup and view all the answers

Nonsense-mediated decay targets mRNAs with premature stop codons.

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

SncRNAs are processed by ______ into small fragments.

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

Which label is used to visualize specific DNA/RNA sequences in chromosomes or cells?

<p>Fluorescent label (C)</p> Signup and view all the answers

The main difference between a Southern blot and a Northern blot is that Southern blots analyze RNA while Northern blots analyze DNA.

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

What technology uses chain-terminating dideoxynucleotides to determine DNA sequences?

<p>Sanger Sequencing</p> Signup and view all the answers

FISH stands for __________ in situ hybridization.

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

Match the following genetic engineering techniques with their descriptions:

<p>Knock-out (KO) = Delete part of a gene causing loss-of-function mutation Conditional KO = Induces KO only under specific conditions Transgenic or Knock-In (KI) = Alters gene sequence to change the gene CRISPR = Engineered nuclease technology for genome editing</p> Signup and view all the answers

What is one application of DNA sequencing?

<p>Paternity tests (C)</p> Signup and view all the answers

The Cre-lox system allows for the precise control of gene knockouts in specific tissues.

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

Name one of the engineered nucleases used in genetic engineering.

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

What gene is primarily responsible for determining maleness?

<p>SRY gene (C)</p> Signup and view all the answers

Individuals with Klinefelter syndrome have an extra Y chromosome.

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

What happens to the gonadal ridges in the presence of a Y chromosome?

<p>They develop into testes.</p> Signup and view all the answers

Individuals with a karyotype of 47, XXY are diagnosed with __________ syndrome.

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

Match the following terms with their descriptions:

<p>SRY gene = Determines male development Klinefelter syndrome = 47, XXY karyotype Turner syndrome = 45, X0 karyotype Pseudoautosomal regions = Allow X and Y recombination</p> Signup and view all the answers

Which of the following describes sexual dimorphism?

<p>The differences between male and female traits beyond reproduction (D)</p> Signup and view all the answers

All human embryos start as distinctly male or female until differentiation occurs.

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

What is the primary role of the hormones secreted by testes during sexual differentiation?

<p>To drive male sexual differentiation and inhibit female reproductive organ development.</p> Signup and view all the answers

What is one of the key modifications scientists made to the CRISPR-Cas9 system for their in vitro research?

<p>They combined tracrRNA and crRNA into a single guide RNA (gRNA). (C)</p> Signup and view all the answers

CRISPR-Cas9 is less efficient than previous genome editing technologies.

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

What are the two main repair mechanisms that CRISPR-Cas9 utilizes?

<p>Non-Homologous End Joining (NHEJ) and Homology-Directed Repair (HDR).</p> Signup and view all the answers

The CRISPR-Cas9 system requires a ____ protein adapted for eukaryotic conditions.

<p>Cas9</p> Signup and view all the answers

Match the following aspects of CRISPR-Cas9 with their purposes:

<p>Cas9 Protein = Bacterial protein adapted for eukaryotic conditions gRNA = Custom-designed to target DNA Delivery System = Methods for gene insertion Repair Template = Used for homology-directed repair (HDR)</p> Signup and view all the answers

Which of the following is NOT a characteristic of Non-Homologous End Joining (NHEJ)?

<p>Requires a repair template (D)</p> Signup and view all the answers

Homology-Directed Repair (HDR) is quicker than Non-Homologous End Joining (NHEJ).

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

Name one advancement made by scientists to improve the CRISPR-Cas9 system for precise editing.

<p>Engineered Cas9 variants with nickase activity.</p> Signup and view all the answers

What is the primary function of the crRNA in the CRISPR-Cas system?

<p>To guide Cas proteins to target DNA (B)</p> Signup and view all the answers

The CRISPR system cannot remember previous viral infections.

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

Name one bacterial species associated with Type I CRISPR-Cas systems.

<p>E. coli</p> Signup and view all the answers

The PAM sequence is necessary for Cas9 to recognize and bind to the DNA, specifically it is a sequence of _____ in the form of 5'-NGG-3'.

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

Match the type of CRISPR-Cas system to its associated characteristic:

<p>Type I = Involves Cascade complex Type II = Used for genome editing with Cas9 Type III = Contains Cas10 complex</p> Signup and view all the answers

What are the three main steps of the CRISPR-Cas mechanism?

<p>Spacer Acquisition, crRNA Biogenesis, Target Interference (C)</p> Signup and view all the answers

TracrRNA is important for connecting crRNA to Cas9.

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

What is the role of the crRNA in targeting foreign DNA?

<p>It contains a sequence complementary to the target DNA.</p> Signup and view all the answers

Flashcards

SRY Gene

The gene on the Y chromosome that determines male development. Its presence triggers the formation of testes; its absence leads to female development.

Klinefelter Syndrome

A genetic condition where males have an extra X chromosome (XXY). They are genetically male but may have some female physical characteristics.

Turner Syndrome

A genetic condition where females have only one X chromosome (XO). They are genetically female but may have some physical traits associated with males.

Karyotype

A visual representation of an individual's chromosomes arranged according to size and shape. It reveals the number and structure of chromosomes.

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Bipotential Gonads

The undifferentiated gonadal ridges that can develop into either male or female gonads. They are present in early embryos.

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Sexual Differentiation

The process of development of the embryo's reproductive system based on sex. The SRY gene plays a crucial role in directing this process.

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Primary Sex Characteristics

The reproductive organs and structures that are directly involved in sexual reproduction. These include testes, ovaries, and internal genitalia.

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Secondary Sex Characteristics

The physical features that appear during puberty and differentiate males and females. These include breasts, facial hair, and body shape.

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Insulator

A DNA element that prevents enhancers from activating the wrong promoters, restricting enhancer action to specific regions.

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Silencer

A DNA element that reduces transcription by decreasing the rate at which RNA polymerase transcribes a gene.

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How do insulators control enhancers?

Insulators prevent enhancers from activating the wrong promoters by acting as a physical barrier or by looping the DNA to isolate enhancer activity.

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Activator

A protein that binds to enhancers or other regulatory elements and increases transcription.

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Repressor

A protein that binds to silencer regions or competes with activators, ultimately reducing the rate of transcription.

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Alternative Splicing

A process that produces different mRNA isoforms (variants) from the same gene, leading to diverse protein functions.

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miRNA

A small, non-coding RNA that regulates gene expression by binding to mRNA and repressing translation.

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siRNA

A small, non-coding RNA that regulates gene expression by binding to mRNA and inducing its degradation.

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Paramutation

A process where interactions between alleles lead to heritable changes in gene expression without altering the DNA sequence.

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X inactivation

In female mammals, one X chromosome is silenced in each cell, balancing gene expression with males.

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Genomic imprinting

Expression of specific genes depends on their parental origin due to epigenetic marks inherited from the mother or father.

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How does behavioral epigenetics affect an individual?

Life experiences, especially early ones, can induce epigenetic changes that influence an individual's development and health.

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Restriction endonucleases

Enzymes that cleave DNA at/near specific recognition sequences called restriction sites, often palindromes.

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Southern Blot

A technique used to identify specific DNA sequences by separating DNA fragments based on size and then transferring them to a membrane for hybridization with a labeled probe.

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Northern Blot

A technique used to identify specific RNA sequences using electrophoresis to separate RNA molecules based on size followed by transfer to a membrane for hybridization with a labeled probe.

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FISH

A technique that uses fluorescently labeled probes to visualize specific DNA or RNA sequences within chromosomes or cells.

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PCR

A technique that amplifies specific DNA sequences by repeatedly copying them using a polymerase enzyme.

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qPCR

A technique that quantifies the amount of DNA amplified during PCR using fluorescent markers.

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Sanger Sequencing

A method for determining the nucleotide sequence of DNA by using chain-terminating dideoxynucleotides (ddNTPs) to generate fragments of varying lengths, which are then analyzed to determine the sequence.

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Gene Knockout

The process of altering a gene to make it non-functional to study its role in a biological process.

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CRISPR/Cas9

A powerful gene editing tool that allows for precise modifications to the genome.

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CRISPR-Cas system

A bacterial immune system that provides a "memory" of previous viral infections and allows for targeted destruction of viral DNA.

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Spacer Acquisition

The process where bacteria capture a piece of viral DNA (protospacer) and integrate it into their CRISPR array.

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crRNA Biogenesis

The CRISPR array is transcribed into a long RNA molecule (pre-crRNA) that is then processed into smaller, guide RNA molecules (crRNAs).

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Target Interference

crRNAs guide Cas proteins (like Cas9) to the viral DNA, where they cleave and destroy it.

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PAM sequence

A short DNA sequence (5'-NGG-3') that acts as a "landing pad" for Cas9 to bind.

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tracrRNA

A type of RNA that helps process pre-crRNA and guides Cas9 to the correct target DNA sequence.

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NHEJ (Non-Homologous End Joining)

A DNA repair pathway that joins broken DNA ends together. It is error-prone and often results in insertions or deletions (indels) in the DNA sequence.

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HDR (Homology-Directed Repair)

A precise DNA repair pathway that uses a homologous template to guide the repair process, resulting in accurate gene insertions or corrections.

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Base Editor

A CRISPR-Cas9 variant that enables single-nucleotide changes in DNA without creating double-strand breaks.

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Prime Editing

A CRISPR-Cas9-based method that combines a Cas9 nickase with a reverse transcriptase to make targeted insertions or edits in the DNA sequence.

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Delivery System

Method used to introduce Cas9 protein and gRNA into mammalian cells. Examples include plasmids, viral vectors, or lipid nanoparticles.

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Study Notes

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