Cell Biology and Genomics Review

A set of flashcards designed to help review cell biology and genomics concepts, each presenting a question related to the specifics of genome organization, transposable elements, and the role of genetics in health and disease.

What are the units of measurement for cells and their components?

cm, mm, um, nm, Å

What does 1 um equal in meters?

10^-6 m

What instrument is used to visualize cellular structures?

Electron microscope and light microscope.

What is the approximate size of a bacterium?

1-10 microns.

What is the size of a typical animal cell?

10-30 microns.

What defines the eukaryotic genome organization?

The organization and composition of the genome in eukaryotic cells.

What is the Human Genome Project?

A research initiative to sequence and map all the genes of the human species, conducted between 1990 and 2003.

What is an important function of repetitive DNA in the genome?

It contributes to genomic diversity and disease.

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

Approximately 60%.

What is the role of transposons discovered by Barbara McClintock?

They create variations in gene expression and contribute to genetic diversity.

What are Class I transposons?

Retrotransposons.

What are Class II transposons?

DNA transposons.

What are the potential impacts of transposable elements (TEs) in the human genome?

Genomic instability, extensive source of mutations, duplications, alterations in gene expression.

What is the primary cause of Huntington’s Disease?

Tandem CAG repeats.

What is a common type of DNA repeat utilized in forensics?

STR (Short Tandem Repeats).

What do telomeres protect?

The ends of chromosomes.

What happens when telomeres reach a critical length?

Cellular senescence is triggered.

What condition is often associated with mtDNA mutations?

Deafness, diabetes, cardiomyopathy, blindness, dementia.

What does genomics study?

An organism's complete set of genetic information.

What is the relevance of genomics in medicine?

Characterizing mutations to understand human diseases.

What does NGS stand for?

Next-Generation Sequencing.

What is the purpose of a reference genome?

To identify individual differences and disease-causing genes.

What impact has NGS had on mutation identification?

It has allowed the identification of novel and uncharacterized variants.

How many individuals are represented in the current human reference genome?

20 individuals.

What is the significance of the chromatin structure?

It plays a role in the organization and accessibility of the genome.

What is a key aspect of eukaryotic genome evolution?

Reshuffling of genes and regulatory sequences.

What is the significance of copy number variants (CNVs)?

They are repeated sequences that vary between individuals.

What is the effect of genomic instability in humans?

It can lead to conditions such as cancer and genetic disorders.

Who is known for discovering transposons?

Barbara McClintock.

What is the function of a transcription factor?

To regulate the transcription of genes.

What is a common molecular function of nucleic acid enzymes?

They are involved in the synthesis and modification of nucleic acids.

What are STR markers used for in forensic science?

To differentiate between individuals in DNA profiling.

How do mutations arise according to genomic studies?

Through genetic variation and alteration in DNA sequences.

Why is telomere shortening significant in cellular biology?

It limits the number of times a cell can divide.

What are tandem repeats and their relevance?

They are sequences that repeat and can be linked to genetic disorders.

What pathways do retrotransposons utilize during their life cycle?

Transcription, reverse transcription, and insertion.

What predominant feature characterizes the human genome?

It contains a mix of coding and non-coding DNA.

What group of genes is significantly associated with cellular functions in the genome?

Synthetases, kinases, and transcription factors.

What is one challenge in genomics?

The identification and characterization of mutations.

What is the majority composition of the repetitive DNA in the human genome?

Transposable elements (TEs).

How is genetic diversity in populations assessed?

By analyzing variations in the reference genome.

What technology has revolutionized the field of genetics?

Next-Generation Sequencing (NGS).

What syndromes are related to mutations in mtDNA?

Exercise intolerance, deafness, cardiomyopathy, and dementia.

What does the term 'genomic diversity' refer to?

The variation of genomes within a population.

What are the two main classes of transposable elements?

Class I (retrotransposons) and Class II (DNA transposons).

What is the significance of chromosomal telomeres during DNA replication?

They prevent the loss of important DNA sequences.

What is the average age of onset for symptomatic Huntington’s Disease at 39 CAG repeats?

40 years.

How do transposons affect the gene expression in organisms?

They can promote or inhibit the expression of nearby genes.

What medical implications do genomic studies have for future therapies?

Targeted treatments based on genetic profiling.

What defines a rare disorder in the context of genetics?

A condition that affects a small percentage of the population.

What process exemplifies the concept of genomic instability?

The occurrence of mutations leading to cancer.

How do transposons contribute to evolutionary processes?

By facilitating genetic diversity and adaptation.

What are the challenges faced by forensic geneticists?

Ensuring the accuracy of DNA matching and interpretation of STR data.

What is a common medical application of genomics?

Identifying genetic risks for diseases.

How is the diabetes condition linked to mtDNA?

Through specific pathogenic mutations.

What are typical examples of genetic tests in rare disorders?

NGS tests for identifying mutations.

What kind of repeats can be used as identification markers in forensic science?

Tandemly repetitive sequences.

What is the main method of genetic inheritance referred to as?

Heredity.

How does the Human Genome Project assist in understanding human genetics?

By providing a complete mapping of the human genome.

What innovative technologies have emerged from genomic research?

Gene editing techniques like CRISPR.

What is one of the most effective uses of the human genome sequence?

Identifying potential genetic diseases and conditions.

In what way do genes relate to specific traits or functions?

They encode the information necessary for that trait or function.

What challenges arise when trying to sequence complex genomes?

Heterogeneity and repetitive regions complicate the sequencing efforts.

Why do we study DNA mutations in genomics?

To understand the underlying causes of various diseases.

How are genomic sequences related to evolutionary history?

They can provide insights into organismal relationships and ancestry.

What represents a necessary step in transcription?

The initiation of RNA synthesis from a DNA template.

What might the presence of STRs indicate during a forensic investigation?

Potential matches or similarities between DNA samples.

How much of the DNA in a human genome is coding DNA?

About 1-2%.

What does genomic diversity imply about populations and species?

The variability within and between populations enhances adaptation.

What are the applications of genomics in agriculture?

Developing disease-resistant crops and livestock.

What biological process allows for the integration of transposable elements into the genome?

Transposition.

Why is mutation characterization critical in genomic medicine?

To provide effective and personalized treatment options.

What outcome does the presence of certain STR markers in an individual signify?

Identity or familial relationships.

What disease is characterized by CAG repeat expansions?

Huntington's Disease.

What role to telomeres play in chromosome protection?

They prevent chromosome deterioration during cell division.

How can mutations in mtDNA result in multiple diseases?

By affecting critical cellular functions due to compromised energy production.

What relationship does genomic instability have with cancer development?

Increased mutation rates can lead to oncogenesis.

How can genomics help in the context of evolutionary studies?

By revealing genetic variations and evolutionary adaptations.

What fraction of the human genome is non-coding DNA?

Approximately 98-99%.

What is the purpose of creating a genetic map during genomic studies?

To locate genes and genetic markers within the genome.

How do environmental factors interplay with genomics?

They can influence gene expression and contribute to phenotypic diversity.

What impact does the identification of rare genetic variations have on healthcare?

It can improve diagnosis and treatment decisions for patients.

What is the significance of identifying transposons in genetics?

They provide insights into genome dynamics and evolution.

What critical information does a completed human genome provide?

It forms the basis for understanding human biology and disease.

What are the predominant types of genetic variation observed in populations?

Single nucleotide polymorphisms (SNPs), copy number variations (CNVs).

Why might certain genomic regions be underrepresented in a reference genome?

They may not reflect global diversity or variations found in underrepresented populations.

What is a potential downside of using repetitive sequences in genetic profiling?

They may lead to difficulties in distinguishing between similar profiles.

How do STR markers affect the reliability of forensic analysis?

They enhance the specificity and accuracy of DNA matching.

What therapeutic approaches may stem from understanding the human genome?

Gene therapy, personalized medicine, and targeted therapies.

What unique genomic characteristics might be studied in pathogenic organisms?

Resistance genes and virulence factors.

How can understanding genomic instability aid in cancer treatment strategies?

It allows for the design of targeted therapies based on individual mutations.

What therapeutic benefit can arise from understanding telomere biology?

Potential interventions in age-related diseases.

What tools may genomic studies provide to public health?

Data for population health trends and disease prevention strategies.

What fundamental principle underlies the dynamic nature of genomes over time?

Evolution through mutation, selection, and genetic drift.

What is the importance of understanding how genes are turned on and off?

It is critical for deciphering developmental processes and disease states.

What is a common challenge in interpreting genomic data?

Differentiating between benign and pathogenic mutations.

How does the study of genomics differ from traditional genetics?

Genomics focuses on the entire genome, while genetics often studies single genes.

What is the outcome of excessive shortening of telomeres in cell division?

Cellular senescence or apoptosis.

What defines a genetic marker's utility in forensic science?

Its ability to uniquely identify individuals based on DNA analysis.

How can genomic data inform treatment for complex diseases?

By identifying genetic predispositions and variations affecting drug efficacy.