Cell Biology:M3_Genetics_ Differentiation, Apoptosis, and Cancer

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Questions and Answers

What is the difference between a proto-oncogene and an oncogene?

A proto-oncogene is a normal gene that controls cell growth and division. An oncogene is a mutated or excessively activated proto-oncogene that can cause cancer.

What is the function of an antioncogene?

Antioncogenes suppress the activation of specific oncogenes.

What are the two main types of cells found in the human body?

Somatic cells and germline cells.

What is the function of histones?

<p>Histones are proteins that facilitate the compaction of genomic DNA by coiling it into the nucleus of a cell, providing structural support for chromosomes.</p> Signup and view all the answers

Describe the difference between an allele and a locus.

<p>An allele is a specific form of a gene, while a locus is the specific position of a gene on a chromosome.</p> Signup and view all the answers

What is the difference between a genotype and a phenotype?

<p>A genotype refers to the genetic makeup of an individual, while a phenotype refers to the observable physical characteristics of an individual, influenced by both genotype and environmental factors.</p> Signup and view all the answers

Explain the difference between a dominant and a recessive allele.

<p>A dominant allele exerts its effect regardless of the other allele present, while a recessive allele's effect is only observable if two copies of the recessive allele are present.</p> Signup and view all the answers

What is meant by homologous chromosomes?

<p>Homologous chromosomes are pairs of chromosomes that contain the same genes at the same loci, one chromosome inherited from the mother and the other from the father.</p> Signup and view all the answers

What is polyploidy?

<p>Polyploidy is a condition in which a euploid cell has more than the diploid number of chromosomes.</p> Signup and view all the answers

What is the difference between triploidy and aneuploidy?

<p>Triploidy is a condition where a zygote has three copies of each chromosome, while aneuploidy is a condition where a cell does not contain a multiple of 23 chromosomes, often due to the gain or loss of a single chromosome.</p> Signup and view all the answers

Describe the difference between a duplication and an inversion.

<p>A duplication involves the duplication of a segment of a chromosome, while an inversion involves the reversal of a segment of a chromosome.</p> Signup and view all the answers

What is a translocation in the context of chromosomes?

<p>A translocation involves the exchange of genetic material between nonhomologous chromosomes.</p> Signup and view all the answers

Explain the difference between a Robertsonian translocation and a reciprocal translocation.

<p>A Robertsonian translocation involves the fusion of the long arms of two nonhomologous chromosomes, forming a single chromosome, while a reciprocal translocation involves an exchange of segments between two nonhomologous chromosomes, without any loss of genetic material.</p> Signup and view all the answers

What is the difference between a concordant and discordant trait in twin studies?

<p>A concordant trait is one that is shared by both members of a twin pair, while a discordant trait is one that is present in one twin but not the other.</p> Signup and view all the answers

What is epigenetics?

<p>Epigenetics refers to changes in gene expression that do not involve alterations to the underlying DNA sequence, but rather involve modifications to the DNA or the proteins associated with it.</p> Signup and view all the answers

What are the key differences between euchromatin and heterochromatin?

<p>Euchromatin is a less condensed form of DNA that is transcriptionally active, while heterochromatin is a more condensed form of DNA that is transcriptionally inactive.</p> Signup and view all the answers

What are the two primary histone modifications discussed in the text?

<p>The two primary histone modifications discussed are acetylation, which leads to the relaxation of chromatin and increased transcription, and methylation, which can suppress the function of a gene.</p> Signup and view all the answers

Describe the role of non-coding RNAs in gene regulation.

<p>Non-coding RNAs, particularly microRNAs (miRNAs), play a significant role in gene regulation by controlling the expression of messenger RNA (mRNA) molecules, which are responsible for protein synthesis.</p> Signup and view all the answers

What is genetic imprinting?

<p>Genetic imprinting is a phenomenon where the expression of a gene is determined by its parental origin, meaning that only one of the two alleles is active, depending on whether it was inherited from the mother or the father.</p> Signup and view all the answers

What is the difference between biallelic and monoallelic expression?

<p>Biallelic expression occurs when both maternal and paternal alleles are active and expressed, while monoallelic expression occurs when only one allele is active and the other is silenced.</p> Signup and view all the answers

Describe the characteristics of Prader-Willi Syndrome.

<p>Prader-Willi Syndrome is a genetic disorder characterized by short stature, obesity, hypogonadism, and intellectual disability, typically caused by a deletion of the long arm of chromosome 15 inherited from the father.</p> Signup and view all the answers

What is the difference between Angelman Syndrome and Beckwith-Wiedemann Syndrome?

<p>Both Angelman Syndrome and Beckwith-Wiedemann Syndrome are genetic disorders, but they are caused by different genetic mechanisms. Angelman Syndrome is often caused by a deletion of the long arm of chromosome 15 inherited from the mother resulting in intellectual disability, seizures, and ataxic gait. Beckwith-Wiedemann Syndrome is characterized by overgrowth, organomegaly, and an increased risk of tumors, often caused by uniparental disomy of chromosome 11.</p> Signup and view all the answers

How can epigenetic disorders be treated?

<p>Epigenetic disorders can be treated with DNA methylating agents, such as 5-azacytidine, and histone deacetylase inhibitors, which increase chromatic compaction and decrease transcriptional activity.</p> Signup and view all the answers

Which of the following is NOT a characteristic of aneuploidy?

<p>A cell containing a multiple of 23 chromosomes (D)</p> Signup and view all the answers

What is the term for a gene that is expressed only if two copies of the recessive allele are present?

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

Which of the following is a type of genetic imprinting?

<p>Monoallelic expression (C)</p> Signup and view all the answers

A concordant trait in twin studies suggests a strong environmental influence.

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

Histone acetylation generally leads to increased chromatin compaction and decreased transcription.

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

Non-coding RNAs play a role in regulating gene expression.

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

Genetic imprinting is a phenomenon where the expression of a gene is determined by its parental origin.

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

Prader-Willi Syndrome is caused by a deletion on chromosome 15 inherited from the mother.

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

Beckwith-Wiedemann Syndrome is characterized by uniparental disomy of chromosome 11.

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

Flashcards

Cell differentiation

Changes in cell properties during embryonic development.

Apoptosis

Programmed cell death that is a normal part of development.

Phagocytosis

Process cells use to engulf large particles or pathogens.

Proto-oncogenes

Normal genes coding for proteins that regulate cell functions.

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Oncogenes

Mutated proto-oncogenes that can contribute to cancer.

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Antioncogenes

Tumor suppressor genes that prevent cancer by inhibiting oncogenes.

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Gametes

Haploid reproductive cells (sperm and egg) containing 23 chromosomes.

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Germline

Genetic material passed from reproductive cells to offspring.

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Somatic cells

Diploid cells making up the body, excluding gametes.

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Histone

Proteins that package DNA into a compact structure.

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Gene

A specific DNA segment that codes for a protein.

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Allele

Different forms of a gene at a specific location.

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Locus

Specific location of a gene on a chromosome.

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Polymorphic locus

A gene location with multiple alleles present in a population.

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Genotype

Genetic makeup of an individual at a specific locus.

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Phenotype

Outward expression of genotype affected by environment.

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Dominant allele

An allele that expresses its effect even when paired with a different allele.

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Recessive allele

An allele that is masked by a dominant allele in phenotype.

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Carrier

An individual who carries one copy of a recessive allele but does not show it.

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Homologous alleles

Identical alleles at the same locus on both chromosome pairs.

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Heterozygous alleles

Different alleles at the same locus on homologous chromosomes.

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Polyploidy

Condition with more than two sets of chromosomes.

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Aneuploidy

Having an abnormal number of chromosomes, not a multiple of 23.

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Trisomy

Condition where an individual has three copies of a particular chromosome.

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Cri du chat syndrome

Genetic disorder caused by deletion on chromosome 5.

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Down syndrome

Genetic disorder caused by trisomy of chromosome 21.

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Turner syndrome

Condition of a female with only one X chromosome (45, X).

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Klinefelter syndrome

Genetic condition in males with an extra X chromosome (47, XXY).

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Mendelian trait

Trait controlled by a single gene, following simple inheritance patterns.

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Penetrance

Percentage of individuals with a genotype that exhibit the expected phenotype.

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Expressivity

Degree of variation in phenotype for a given genotype.

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Epigenetics

Study of heritable changes in gene expression not caused by changes in DNA sequence.

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Genetic imprinting

Differential expression of an allele depending on which parent it is inherited from.

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Study Notes

Cell Differentiation and Apoptosis

  • Cell differentiation involves changes in cell properties during development to form body structures and organs
  • Apoptosis is programmed cell death

Cancer and Mutations

  • Proto-oncogenes are normal genes coding for proteins controlling cell growth and division
  • Oncogenes are mutated proto-oncogenes that can cause cancer
  • Antioncogenes (tumor suppressor genes) suppress oncogene activation

Chromosomes

  • Gametes (sperm and egg) are haploid cells (one member of each chromosome pair)
  • Germline cells are reproductive cells that pass on genes to offspring
  • Somatic cells are non-reproductive cells that are diploid (46 chromosomes in humans, one from each parent)
  • Histones are important proteins that package DNA, enabling a compact structure within the nucleus

Genes, Alleles, and Genotypes

  • Genes are segments of DNA with instructions for protein synthesis
  • Alleles are different forms of a gene at a specific locus
  • Locus is the position of a gene on a chromosome
  • Polymorphic locus has more than one common allele in a population
  • Genotype is the genetic combination (alleles) at a given locus
  • Phenotype is the observable characteristics resulting from genotype and environment
  • Dominant alleles have observable effects
  • Recessive alleles have hidden effects
  • Carriers have one recessive allele for a trait

Chromosome Structure Abnormalities

  • Triploidy: having three copies of each chromosome
  • Aneuploidy: not having a multiple of 23 chromosomes (e.g., trisomy, monosomy)
  • Deletions: loss of a chromosome segment
  • Duplications: extra copies of a chromosome segment
  • Inversions: reversed segment order in a chromosome
  • Translocations: exchange of segments between nonhomologous chromosomes
  • Robertsonian translocation: fusion of long arms of two nonhomologous chromosomes
  • Fragile sites: areas of weak chromosome structure prone to breaks

Mendelian Traits and Genetic Transmission

  • Mendelian traits are determined by single genes
  • Autosomal traits are not sex-linked
  • Autosomal dominant traits: one affected allele causes the trait, whereas recessive traits require two affected alleles.
  • Autosomal recessive traits exhibit variation in penetrance (proportion of individuals with the genotype who express the phenotype) and expressivity (degree to which the phenotype is expressed).
  • X-linked traits are connected to the X chromosome
  • Consanguinity increases the chance of offspring inheriting two copies of the same recessive allele.
  • Multifactorial inheritance is caused by multiple genes and environmental factors

Epigenetics

  • Epigenetics refers to heritable changes in gene expression without changes in the DNA sequence
  • Methylation and histone modifications are examples of epigenetic mechanisms altering gene expression via chemical modifications.
  • DNA methylating agents and/or histone deacetylase inhibitors can reduce the activity of genes.

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