Big Idea 3: Genetics and Information Transfer
Big Idea 3: Living systems store, retrieve, transmit and respond to information essential to life processes.
Genetic information provides for continuity of life and, in most cases, this information is passed from parent to offspring via DNA. The double-stranded structure of DNA provides a simple and elegant solution for the transmission of heritable information to the next generation; by using each strand as a template, existing information can be preserved and duplicated with high fidelity within the replication process. However, the process of replication is imperfect, and errors occur through chemical instability and environmental impacts. Random changes in DNA nucleotide sequences lead to heritable mutations if they are not repaired. To protect against changes in the original sequence, cells have multiple mechanisms to correct errors. Despite the action of repair enzymes, some mutations are not corrected and are passed to subsequent generations. Changes in a nucleotide sequence, if present in a protein-coding region, can change the amino acid sequence of the polypeptide. In other cases, mutations can alter levels of gene expression or simply be silent. In order for information in DNA to direct cellular processes, information must be transcribed (DNA→RNA) and, in many cases, translated (RNA→protein). The products of transcription and translation play an important role in determining metabolism, i.e., cellular activities and phenotypes. Biotechnology makes it possible to directly engineer heritable changes in cells to yield novel protein products.
In eukaryotic organisms, heritable information is packaged into chromosomes that are passed to daughter cells. Alternating with interphase in the cell cycle, mitosis followed by cytokinesis provides a mechanism in which each daughter cell receives an identical and a complete complement of chromosomes. Mitosis ensures fidelity in the transmission of heritable information, and production of identical progeny allows organisms to grow, replace cells, and reproduce asexually.
Sexual reproduction, however, involves the recombination of heritable information from both parents through fusion of gametes during fertilization. Meiosis followed by fertilization provides a spectrum of possible phenotypes in offspring and on which natural selection operates.
Mendel was able to describe a model of inheritance of traits, and his work represents an application of mathematical reasoning to a biological problem. However, most traits result from interactions of many genes and do not follow Mendelian patterns of inheritance. Understanding the genetic basis of specific phenotypes and their transmission in humans can raise social and ethical issues.
The expression of genetic material controls cell products, and these products determine the metabolism and nature of the cell. Gene expression is regulated by both environmental signals and developmental cascades or stages. Cell signaling mechanisms can also modulate and control gene expression. Thus, structure and function in biology involve two interacting aspects: the presence of necessary genetic information and the correct and timely expression of this information.
Genetic information is a repository of instructions necessary for the survival, growth and reproduction of the organism. Changes in information can often be observed in the organism due to changes in phenotypes. At the molecular level, these changes may result from mutations in the genetic material whereupon effects can often be seen when the information is processed to yield a polypeptide; the changes may be positive, negative or neutral to the organism. At the cellular level, errors in the transfer of genetic information through mitosis and meiosis can result in adverse changes to cellular composition. Additionally, environmental factors can influence gene expression.
Genetic variation is almost always advantageous for the long-term survival and evolution of a species. In sexually reproducing organisms, meiosis produces haploid gametes, and random fertilization produces diploid zygotes. In asexually reproducing organisms, variation can be introduced through mistakes in DNA replication or repair and through recombination; additionally, bacteria can transmit and/or exchange genetic information horizontally (between individuals in the same generation). Viruses have a unique mechanism of replication that is dependent on the host metabolic machinery. Viruses can introduce variation in the host genetic material through lysogenesis or latent infection.
To function in a biological system, cells communicate with other cells and respond to the external environment. Cell signaling pathways are determined by interacting signal and receptor molecules, and signaling cascades direct complex behaviors that affect physiological responses in the organism by altering gene expression or protein activity. Nonheritable information transmission influences behavior within and between cells, organisms and populations; these behaviors are directed by underlying genetic information, and responses to information are vital to natural selection and evolution. Animals have evolved sensory organs that detect and process external information. Nervous systems interface with these sensory and internal body systems, coordinating response and behavior; and this coordination occurs through the transmission and processing of signal information. Behavior in the individual serves to increase its fitness in the population while contributing to the overall survival of the population.
From the AP Biology Curriculum Framework.
Genetic information provides for continuity of life and, in most cases, this information is passed from parent to offspring via DNA. The double-stranded structure of DNA provides a simple and elegant solution for the transmission of heritable information to the next generation; by using each strand as a template, existing information can be preserved and duplicated with high fidelity within the replication process. However, the process of replication is imperfect, and errors occur through chemical instability and environmental impacts. Random changes in DNA nucleotide sequences lead to heritable mutations if they are not repaired. To protect against changes in the original sequence, cells have multiple mechanisms to correct errors. Despite the action of repair enzymes, some mutations are not corrected and are passed to subsequent generations. Changes in a nucleotide sequence, if present in a protein-coding region, can change the amino acid sequence of the polypeptide. In other cases, mutations can alter levels of gene expression or simply be silent. In order for information in DNA to direct cellular processes, information must be transcribed (DNA→RNA) and, in many cases, translated (RNA→protein). The products of transcription and translation play an important role in determining metabolism, i.e., cellular activities and phenotypes. Biotechnology makes it possible to directly engineer heritable changes in cells to yield novel protein products.
In eukaryotic organisms, heritable information is packaged into chromosomes that are passed to daughter cells. Alternating with interphase in the cell cycle, mitosis followed by cytokinesis provides a mechanism in which each daughter cell receives an identical and a complete complement of chromosomes. Mitosis ensures fidelity in the transmission of heritable information, and production of identical progeny allows organisms to grow, replace cells, and reproduce asexually.
Sexual reproduction, however, involves the recombination of heritable information from both parents through fusion of gametes during fertilization. Meiosis followed by fertilization provides a spectrum of possible phenotypes in offspring and on which natural selection operates.
Mendel was able to describe a model of inheritance of traits, and his work represents an application of mathematical reasoning to a biological problem. However, most traits result from interactions of many genes and do not follow Mendelian patterns of inheritance. Understanding the genetic basis of specific phenotypes and their transmission in humans can raise social and ethical issues.
The expression of genetic material controls cell products, and these products determine the metabolism and nature of the cell. Gene expression is regulated by both environmental signals and developmental cascades or stages. Cell signaling mechanisms can also modulate and control gene expression. Thus, structure and function in biology involve two interacting aspects: the presence of necessary genetic information and the correct and timely expression of this information.
Genetic information is a repository of instructions necessary for the survival, growth and reproduction of the organism. Changes in information can often be observed in the organism due to changes in phenotypes. At the molecular level, these changes may result from mutations in the genetic material whereupon effects can often be seen when the information is processed to yield a polypeptide; the changes may be positive, negative or neutral to the organism. At the cellular level, errors in the transfer of genetic information through mitosis and meiosis can result in adverse changes to cellular composition. Additionally, environmental factors can influence gene expression.
Genetic variation is almost always advantageous for the long-term survival and evolution of a species. In sexually reproducing organisms, meiosis produces haploid gametes, and random fertilization produces diploid zygotes. In asexually reproducing organisms, variation can be introduced through mistakes in DNA replication or repair and through recombination; additionally, bacteria can transmit and/or exchange genetic information horizontally (between individuals in the same generation). Viruses have a unique mechanism of replication that is dependent on the host metabolic machinery. Viruses can introduce variation in the host genetic material through lysogenesis or latent infection.
To function in a biological system, cells communicate with other cells and respond to the external environment. Cell signaling pathways are determined by interacting signal and receptor molecules, and signaling cascades direct complex behaviors that affect physiological responses in the organism by altering gene expression or protein activity. Nonheritable information transmission influences behavior within and between cells, organisms and populations; these behaviors are directed by underlying genetic information, and responses to information are vital to natural selection and evolution. Animals have evolved sensory organs that detect and process external information. Nervous systems interface with these sensory and internal body systems, coordinating response and behavior; and this coordination occurs through the transmission and processing of signal information. Behavior in the individual serves to increase its fitness in the population while contributing to the overall survival of the population.
From the AP Biology Curriculum Framework.