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Fields of genetics

1. Transmission genetics: The study of the mechanisms involved in the passage of genes from one generation to the next 2. Population genetics: The scientific study of the inheritance and prevalence of genes in populations, usually using statistical analysis. Concerned with genetic composition of populations and changes over time and geographic space 3. Molecular genetics: Study of information storage and transfer at molecular level chemical nature of the gene itself Information storage & transfer a. Molecular biology Organization of genetic information Expression of genetic information Study of hardware and software of genome b. Regulation of gene expression c. DNA recombinant technology (genetic engineering) Modern molecular biology focuses on (1) how the information is arranged (encoded) in the chromosome, (2) how the information is processed, (3) how the blueprint replicates itself whenever the cell divides so that each cell may have a copy of the blueprint, and (4) how the information can be modified to provide new message material. Regulation and control of each of these information transactions constitute yet another aspect of molecular biology, a discipline that provides an understanding of life through an understanding of the roles played by macromolecules.

DNA and Genes


All living things are made of tiny building blocks called cells. Each cell contains inherited genetic information, packaged in the form of genes. A gene is made of a length of DNA (deoxyribonucleic acid) that has a message encoded in its chemical structure. Genes are the instructions that give organisms their particular characteristics - for example, your genes code for your hair colour and eye colour. Although the chemical building blocks of DNA are the same for every living organism, the ordering or sequence of the building blocks varies. This variation is what determines an organisms physical make-up and features. By altering the sequence within DNA, inserting new sequences, or turning off certain genes, an organisms characteristics can be changed. The DNA double helix stores information in the form of a genetic code. Sections of DNA that contain complete messages are known as genes. They can be thought of as 'words' along the DNA 'sentences'. To do their job, genes need more than just the code for a product. Each gene also has regulatory (manager) sections, which are important for its control. The first regulator is a promoter that controls such things as switching the gene off or on. This effectively controls which cells the gene will work in, when the gene will work, for how long and how hard.

What Is A Gene?

How Genes Work


The second regulator comes at the end of the gene. This is the stop regulator that controls when the gene will stop working and how long the product of the gene will last. Between these two regulator sections of the gene is the code for the protein product. Each organism has its own regulators. So, an entire gene from one organism will not automatically work if it is placed in a different organism. To make a gene work in a different organism, the regulator sections specific to that organism usually need to be inserted along with the gene. When you wish to send information to a friend who lives far away, you write the information in a letter and send the letter to them - you dont physically go to your friend and inform them personally. This is a bit like how genes instruct other parts of a cell to do their work for the body. The first step in the process is transcription. The information from the gene is copied onto another molecule called messenger RNA (mRNA) that takes the information to other parts of the cell to process. If your friend far away speaks a different language, they would need the letter translated before they could understand it. If you were to send the letter via a translation agency of some description, then when your friend receives the letter, they will understand it perfectly. In a cell, before any part of the cell can receive and carry out the information, the instructions must be translated into a format it can understand. This new format for the information is called protein. Translation of messenger RNA into protein takes place at the ribosomes. They are the translation agencies of a cell. Each gene holds a different set of instructions to produce proteins of different shape and chemical composition. Different proteins perform different functions in the body In between the well-structured genes are large sections of DNA for which no function has yet been identified. These areas have been called junk DNA or 'non-coding DNA' and make up a large proportion of the genomes of both plants and animals. We dont really know. This DNA appears to act as filler in between genes and a number of ideas are starting to emerge about what role it plays. This is a mystery to be solved in the next couple of decades. Some of the ideas are: o it is where defective genes, or pseudogenes, are dumped o it is the accumulated DNA of viruses that have infected the body and failed to take over the cell o it acts as a protective buffer against genetic damage and harmful mutations, because the area is irrelevant to the metabolic and developmental processes (if a random change occurs in the sequence, there is no effect on the body) o it acts as a reservoir of sequences from which potentially advantageous new genes can emerge. Researchers believe that this unknown DNA probably plays some role in regulating the 'coding DNA' and therefore cellular processes. But there is currently very little knowledge about the relationship between non-coding DNA and the DNA of genes. Onions contain 12 times more DNA per cell than humans. A puffer fishs genome is only about one tenth the size of the human, yet seems to have about the same number of genes. The ratio of functional DNA to in-between filler DNA of unknown function differs widely per species.

Reading Genes - Transcription


Interpreting Genes - Translation


DNA Unknown

Chickens have a similar number of genes to humans: 20,000 to 23,000 for chickens and 25,000 to 30,000 for humans. But their genome is much smaller - they have 1 billion DNA bases, compared to about 3 billion in humans. The chicken genome appears to contain less repetitive non-coding DNA than the human genome. Based on their function, several types of RNA exist. MessengerRNA (mRNA) is used to transfer genetic information, in the form of nucleotide sequence, from genes to ribosomes, where the genetic sequence is used to determine the sequence of amino acids in a polypeptide. Ribosomal RNA (rRNA) is the major component of ribosomes, the structures on which polypeptides are synthesized. rRNA comprises most RNA within a cell. Transfer RNA (tRNA) functions as an adaptor that links the sequence of nucleotides in mRNA to the sequence of amino acids in a polypeptide

TYPES OF RNA

Chromosomes
Humans have 22 pairs of autosomes and a pair of sex chromosomes X/X in females and X/Y in males. Members of a pair of chromosomes are known as homologs. For each pair of homologous chromosomes, one member is inherited from the father, and the other from the mother. The Y chromosome, which is the only chromosome that is not essential for life, has genes determining that the fetus develops a male phenotype. It is transmitted from father to son. Chromosomes are numbered and grouped according to their relative sizes and the positions of the centromeres. A chromosome is composed of DNA, histone proteins, and nonhistone proteins. Euchromatin refers to regions of a chromosome in which the chromatin is relatively open. Most transcribed genes are located in euchromatin. Heterochromatin refers to chromatin that is more tightly packed and in which few genes are transcribed.

BASIC GENE STRUCTURE AND FUNCTION


Promoter and Enhancer Elements
The 5 region of genes contains DNA sequences known as promoters that bind transcription factors. These in turn are involved in the recruitment of RNA polymerase II, which transcribes the sequence in a gene into an mRNA. Most messenger RNAs that encode proteins are synthesized by RNA polymerase II. Ribosomal RNAs are transcribed by RNA polymerase I, whereas transfer RNAs are transcribed by RNA polymerase III. Some promoter elements are common to many genes, and others are essentially unique to a particular gene. Enhancers increase the rate of transcription of a gene, but whereas promoters are situated within close proximity to the point at which transcription begins, enhancers may be located several kilobases distant either upstream or downstream of the gene, or even within the gene. Distantly situated enhancers may be brought closer to a gene by looping of DNA. Unlike promoters, enhancers can function irrespective of their orientation relative to the gene.

Pseudogenes
Pseudogenes contain sequences that are derived from functional genes, but they contain mutations that render them nonfunctional. They are generally believed to be remnants of formerly functional genes that have acquired mutations during evolution.

Gene and genetic code


The Genetic code codons are made up of nucleotide triplets, is known as the triplet hypothesis. Two main steps are involved in the process of gene expression. The synthesis of an RNA molecule from a strand of DNA is called transcription. To transcribe means to make a copy of or otherwise transfer information from one medium to another in a way that preserves the original language of the information. During genetic transcription, the nucleotide sequence (the language) of the DNA strand is copied into the nucleotide sequence of the synthesized RNA molecule. The objective of transcription is to make an accurate copy of a small piece of an organisms genome.
DNA transcription works much like a photocopier in that it transcribes information from one medium to another while preserving the form and language of the information.

In contrast, during the second step, called translation, the language preserved in the RNA must be converted to the amino acid sequence of a polypeptide in order for a protein to be synthesized.
To play a particular song, a musician translates symbols on a page with the aid of a musical instrument. In an analogous way, a cell creates proteins by translating mRNA codons with the aid of its protein synthesis equipment.

You will learn more about each of these steps later In the genetic code, an amino acid is specified by a nonoverlapping sequence of three nucleotide bases in an mRNA molecule. Each group of three bases in mRNA is called a codon. For example, if a portion of an mRNA molecule consisted of the sequence UUCACUCAG, the first codon (UUC) would specify one amino acid (phenylalanine), the next codon (ACU) would specify a second amino acid (threonine), and the last codon (CAG) would specify a third amino acid (glutamine). There are four possible bases at each of the three positions of a codon, so there are a total of 64 possible codons (4 x 4 4 = 64). When reading the code, the cell begins at a fixed starting point, called a start codon (usually the codon AUG), and ends at one of several stop codons (such as UGA or UAA) (such as UGA or UAA) By beginning at a fixed point, the cell ensures that the message from the gene does not become scrambled. The genetic code provides the cell with the equivalent of a dictionary with which to translate the language of DNA into the language of proteins. The conversion of a sequence of bases in mRNA to a sequence of amino acids in a protein is called translation.

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