Biology
KEY CONCEPTS:
A mutation is a random event with regard to the structure of the gene, so the greatest probability is that it will damage or even abolish gene function. Most mutations that affect gene function are recessive: they represent an absence of function, because the mutant gene has been prevented from producing its usual protein.
- Mendelian Genetics Part No. 1 - Defining Key Vocabulary
Solving Mendelian genetics problems can seem somewhat daunting from the onset, especially with the vocabulary that is associated with them. Here we will define key terms that are used in genetics problems, but also, walk you through the proper steps needed...
- Genetic Terms
Genotype is the genetic composition of an organism. Phenotype is the set of characteristic manifested by an organism. An individual has a heterozygous condition if he has 2 different alleles of the same gene An individual has a homozygous condition if...
- Is All Genetic Information Contained In Dna?
KEY TERMS:Positional information describes the localization of macromolecules at particular places in an embryo. The localization may itself be a form of information that is inherited. KEY CONCEPTS: The definition of the gene has reversed from "one gene...
- Mutations May Cause Loss-of-function Or Gain-of-function
KEY TERMS:A null mutation completely eliminates the function of a gene. Leaky mutations leave some residual function, for instance when the mutant protein is partially active (in the case of a missense mutation), or when read-through produces a small...
- Mutations In The Same Gene Cannot Complement
KEY TERMS:A complementation test determines whether two mutations are alleles of the same gene. It is accomplished by crossing two different recessive mutations that have the same phenotype and determining whether the wild-type phenotype can be produced....
Biology
A gene codes for a single polypeptide
KEY TERMS:
- A homomultimer is a protein composed of identical subunits.
- A heteromultimer is a protein that is composed of nonidentical subunits (coded by different genes).
- The one gene : one enzyme hypothesis summarizes the basis of modern genetics: that a gene is a stretch of DNA coding for a single polypeptide chain.
- Most mutations damage gene function.
The first systematic attempt to associate genes with enzymes showed that each stage in a metabolic pathway is catalyzed by a single enzyme and can be blocked by mutation in a different gene. This led to the one gene : one enzyme hypothesis. Each metabolic step is catalyzed by a particular enzyme, whose production is the responsibility of a single gene. A mutation in the gene alters the activity of the protein for which it is responsible.
A modification in the hypothesis is needed to accommodate proteins that consist of more than one subunit. If the subunits are all the same, the protein is a homomultimer, represented by a single gene. If the subunits are different, the protein is a heteromultimer. Stated as a more general rule applicable to any heteromultimeric protein, the one gene : one enzyme hypothesis becomes more precisely expressed as one gene : one polypeptide chain.
Identifying which protein represents a particular gene can be a protracted task. The mutation responsible for creating Mendel's wrinkled-pea mutant was identified only in 1990 as an alteration that inactivates the gene for a starch branching enzyme!
It is important to remember that a gene does not directly generate a protein. As shown previously in Figure 1.2, a gene codes for an RNA, which may in turn code for a protein. Most genes code for proteins, but some genes code for RNAs that do not give rise to proteins. These RNAs may be structural components of the apparatus responsible for synthesizing proteins or may have roles in regulating gene expression. The basic principle is that the gene is a sequence of DNA that specifies the sequence of an independent product. The process of gene expression may terminate in a product that is either RNA or protein.
A mutation is a random event with regard to the structure of the gene, so the greatest probability is that it will damage or even abolish gene function. Most mutations that affect gene function are recessive: they represent an absence of function, because the mutant gene has been prevented from producing its usual protein.Figure 1.26 illustrates the relationship between recessive and wild-type alleles. When a heterozygote contains one wild-type allele and one mutant allele, the wild-type allele is able to direct production of the enzyme. The wild-type allele is therefore dominant. (This assumes that an adequate amount of protein is made by the single wild-type allele. When this is not true, the smaller amount made by one allele as compared to two alleles results in the intermediate phenotype of a partially dominant allele in a heterozygote.)
- Mendelian Genetics Part No. 1 - Defining Key Vocabulary
Solving Mendelian genetics problems can seem somewhat daunting from the onset, especially with the vocabulary that is associated with them. Here we will define key terms that are used in genetics problems, but also, walk you through the proper steps needed...
- Genetic Terms
Genotype is the genetic composition of an organism. Phenotype is the set of characteristic manifested by an organism. An individual has a heterozygous condition if he has 2 different alleles of the same gene An individual has a homozygous condition if...
- Is All Genetic Information Contained In Dna?
KEY TERMS:Positional information describes the localization of macromolecules at particular places in an embryo. The localization may itself be a form of information that is inherited. KEY CONCEPTS: The definition of the gene has reversed from "one gene...
- Mutations May Cause Loss-of-function Or Gain-of-function
KEY TERMS:A null mutation completely eliminates the function of a gene. Leaky mutations leave some residual function, for instance when the mutant protein is partially active (in the case of a missense mutation), or when read-through produces a small...
- Mutations In The Same Gene Cannot Complement
KEY TERMS:A complementation test determines whether two mutations are alleles of the same gene. It is accomplished by crossing two different recessive mutations that have the same phenotype and determining whether the wild-type phenotype can be produced....