Genetics and Evolution- Molecular Basis of Inheritance

Function of chromosomes

  • Chromosomes are thread-like structures made up of DNA and proteins
  • Functionally, chromosomes carry genetic information and are responsible for inheritance
  • They play a crucial role in passing on traits from one generation to another
  • Chromosomes are located in the nucleus of a cell
  • They are responsible for the transmission of hereditary characters

Structure of Chromosomes

  • A chromosome consists of two chromatids connected by a centromere
  • Each chromatid contains a DNA molecule made up of genes
  • Genes are the functional units of hereditary information
  • Chromosomes are visible under a microscope during cell division
  • They become condensed and can be easily observed during mitosis

Types of Chromosomes

  • Autosomes - Chromosomes other than the sex chromosomes
  • Humans have 22 pairs of autosomes
  • Sex chromosomes - Determine the sex of an individual
  • Males have one X and one Y chromosome (XY)
  • Females have two X chromosomes (XX)
  • Sex chromosomes are responsible for the inheritance of sex-linked traits

Karyotype

  • Karyotype is the arrangement of chromosomes in a cell
  • It helps identify genetic disorders and chromosomal abnormalities
  • A karyotype is prepared from a photograph of the chromosomes
  • The chromosomes are arranged in pairs based on their size, centromere position, and banding pattern
  • It helps determine the sex of an individual and detect chromosomal disorders

Importance of Chromosomes

  • Chromosomes contain genes responsible for all the functions and traits of an organism
  • They determine physical characteristics, such as eye color, hair color, and height
  • Chromosomes carry instructions for the synthesis of proteins and other molecules
  • They play a crucial role in the regulation and coordination of various cellular processes
  • Mutations in chromosomes can lead to genetic disorders and diseases

DNA and Chromosomes

  • DNA (Deoxyribonucleic Acid) is the genetic material present in chromosomes
  • DNA is a double-helix structure made up of nucleotides
  • Each nucleotide consists of a sugar, a phosphate group, and a nitrogenous base
  • The nitrogenous bases include adenine (A), thymine (T), guanine (G), and cytosine (C)
  • Genes are segments of DNA that carry the instructions for protein synthesis

Gene Expression

  • Gene expression is the process by which genetic information is decoded and used to produce proteins
  • It involves transcription and translation
  • Transcription occurs in the nucleus, where DNA is copied into mRNA
  • mRNA carries the genetic message from DNA to the ribosomes in the cytoplasm
  • At the ribosomes, translation occurs, where mRNA is used as a template to synthesize proteins

Chromosomal Disorders

  • Chromosomal disorders occur due to abnormalities in the number or structure of chromosomes
  • Examples of chromosomal disorders include Down syndrome, Turner syndrome, and Klinefelter syndrome
  • Down syndrome is caused by the presence of an extra chromosome 21
  • Turner syndrome is characterized by the absence of one X chromosome in females
  • Klinefelter syndrome is characterized by the presence of an extra X chromosome in males

Genetic Mutations

  • Genetic mutations are changes that occur in the DNA sequence of a gene
  • Mutations can be spontaneous or induced by external factors such as radiation or chemicals
  • Types of mutations include point mutations, insertions, deletions, and chromosomal rearrangements
  • Mutations can result in changes to the amino acid sequence of a protein, affecting its structure and function
  • Some mutations can have harmful effects, while others may be neutral or even beneficial

Gene Regulation

  • Gene regulation refers to the control of gene expression
  • It ensures that genes are turned on or off in a specific manner
  • Gene regulation is crucial for the proper development and functioning of organisms
  • It involves various mechanisms such as transcription factors, epigenetic modifications, and regulatory RNAs
  • Gene regulation plays a role in determining cell specialization and maintaining homeostasis

Slide 11

  • Chromosomes are packaging structures for DNA
  • They help in organizing and carrying genetic information
  • Chromosomes ensure accurate transmission of DNA during cell division
  • They play a role in gene regulation and gene expression
  • Changes in chromosome structure or number can lead to genetic disorders

Slide 12

  • Chromosomes are composed of DNA and proteins
  • The DNA molecule is wrapped around histone proteins to form nucleosomes
  • Nucleosomes further condense to form chromatin fibers
  • In the condensed state, chromosomes are visible under a light microscope
  • Chromosome structure varies during different phases of the cell cycle

Slide 13

  • Chromosome number varies among different organisms
  • Humans have 46 chromosomes in each cell (23 pairs)
  • Dogs have 78 chromosomes in each cell (39 pairs)
  • Fruit flies have 8 chromosomes in each cell (4 pairs)
  • Chromosome number is not related to the complexity of an organism

Slide 14

  • Chromosomal abnormalities can result from errors in chromosome segregation during cell division
  • Non-disjunction is one such error where chromosomes fail to separate properly
  • Non-disjunction can lead to aneuploidy, where there is an abnormal number of chromosomes
  • A common example is trisomy 21, leading to Down syndrome, caused by an extra copy of chromosome 21
  • Other chromosomal abnormalities include deletions, duplications, and translocations

Slide 15

  • Chromosomes contain genes that carry the instructions for making proteins
  • Genes are specific regions of DNA that encode for a particular trait
  • Different alleles of a gene can result in variations in traits
  • Genes can interact with the environment to produce a phenotype
  • Multiple genes can work together to control complex traits

Slide 16

  • Chromosomes can undergo genetic recombination during meiosis
  • Genetic recombination is the exchange of genetic material between homologous chromosomes
  • It leads to the creation of new combinations of alleles
  • This increases genetic diversity within a population
  • Crossing over is a major source of genetic recombination

Slide 17

  • Chromosomes are passed from parents to offspring during sexual reproduction
  • The process of fertilization combines the genetic material from both parents
  • One set of chromosomes is inherited from the mother (via the egg) and the other from the father (via the sperm)
  • The new individual has a unique combination of chromosomes and genes
  • Inheritance patterns can be studied using Punnett squares and pedigrees

Slide 18

  • Chromosomes play a role in determining an individual’s sex
  • In humans, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY)
  • The Y chromosome carries genes responsible for male characteristics
  • Sex determination can also be influenced by other chromosomes, such as in birds (ZW system) or insects (XO system)
  • Sex-linked traits are those that are associated with genes on the sex chromosomes

Slide 19

  • Chromosomes can be used to investigate evolutionary relationships
  • Comparative genomics analyzes similarities and differences in chromosome structure across species
  • Chromosome painting is a technique that uses fluorescent probes to label specific chromosomes in different species
  • It helps identify chromosomal rearrangements and study chromosomal evolution
  • Chromosome studies can provide insights into species divergence and relatedness

Slide 20

  • Chromosome abnormalities can be diagnosed through karyotyping and other molecular techniques
  • Techniques like fluorescence in situ hybridization (FISH) can identify specific chromosomal regions or genes
  • Pre-implantation genetic diagnosis (PGD) can be used to screen embryos for chromosomal abnormalities before implantation
  • Chromosome disorders can have significant impacts on individuals’ health and development
  • Understanding chromosome structure and function is essential for studying genetics and evolution.

Slide 21

  • Chromosomes are packaging structures for DNA
  • They help in organizing and carrying genetic information
  • Chromosomes ensure accurate transmission of DNA during cell division
  • They play a role in gene regulation and gene expression
  • Changes in chromosome structure or number can lead to genetic disorders

Slide 22

  • Chromosomes are composed of DNA and proteins
  • The DNA molecule is wrapped around histone proteins to form nucleosomes
  • Nucleosomes further condense to form chromatin fibers
  • In the condensed state, chromosomes are visible under a light microscope
  • Chromosome structure varies during different phases of the cell cycle

Slide 23

  • Chromosome number varies among different organisms
  • Humans have 46 chromosomes in each cell (23 pairs)
  • Dogs have 78 chromosomes in each cell (39 pairs)
  • Fruit flies have 8 chromosomes in each cell (4 pairs)
  • Chromosome number is not related to the complexity of an organism

Slide 24

  • Chromosomal abnormalities can result from errors in chromosome segregation during cell division
  • Non-disjunction is one such error where chromosomes fail to separate properly
  • Non-disjunction can lead to aneuploidy, where there is an abnormal number of chromosomes
  • A common example is trisomy 21, leading to Down syndrome, caused by an extra copy of chromosome 21
  • Other chromosomal abnormalities include deletions, duplications, and translocations

Slide 25

  • Chromosomes contain genes that carry the instructions for making proteins
  • Genes are specific regions of DNA that encode for a particular trait
  • Different alleles of a gene can result in variations in traits
  • Genes can interact with the environment to produce a phenotype
  • Multiple genes can work together to control complex traits

Slide 26

  • Chromosomes can undergo genetic recombination during meiosis
  • Genetic recombination is the exchange of genetic material between homologous chromosomes
  • It leads to the creation of new combinations of alleles
  • This increases genetic diversity within a population
  • Crossing over is a major source of genetic recombination

Slide 27

  • Chromosomes are passed from parents to offspring during sexual reproduction
  • The process of fertilization combines the genetic material from both parents
  • One set of chromosomes is inherited from the mother (via the egg) and the other from the father (via the sperm)
  • The new individual has a unique combination of chromosomes and genes
  • Inheritance patterns can be studied using Punnett squares and pedigrees

Slide 28

  • Chromosomes play a role in determining an individual’s sex
  • In humans, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY)
  • The Y chromosome carries genes responsible for male characteristics
  • Sex determination can also be influenced by other chromosomes, such as in birds (ZW system) or insects (XO system)
  • Sex-linked traits are those that are associated with genes on the sex chromosomes

Slide 29

  • Chromosomes can be used to investigate evolutionary relationships
  • Comparative genomics analyzes similarities and differences in chromosome structure across species
  • Chromosome painting is a technique that uses fluorescent probes to label specific chromosomes in different species
  • It helps identify chromosomal rearrangements and study chromosomal evolution
  • Chromosome studies can provide insights into species divergence and relatedness

Slide 30

  • Chromosome abnormalities can be diagnosed through karyotyping and other molecular techniques
  • Techniques like fluorescence in situ hybridization (FISH) can identify specific chromosomal regions or genes
  • Pre-implantation genetic diagnosis (PGD) can be used to screen embryos for chromosomal abnormalities before implantation
  • Chromosome disorders can have significant impacts on individuals’ health and development
  • Understanding chromosome structure and function is essential for studying genetics and evolution.