GENE L0CATION

AND
STRUCTURE
Submitted by; Areesha Batool
Submitted to; Dr. Humaira
LOCATION OF GENE
The location of a gene in an organism's genome refers to the specific position or coordinates of
that gene on a chromosome or DNA molecule. Genes are the fundamental units of heredity,
carrying the instructions for the synthesis of proteins or functional RNA molecules.
Understanding the location of a gene within the genome is crucial for various genetic and
genomic studies.
Chromosomes
Genes are found on chromosomes, which are long, thread-like structures made of DNA. In humans, there are 46
chromosomes organized into 23 pairs. Genes can be located on any of these chromosomes.
Loci or Locus (plural: loci)
A gene's location is often referred to as its "locus" (plural: loci). A locus is a specific position on a
chromosome where a particular gene can be found.
Genomic Coordinates
Gene location is often described in terms of genomic coordinates. These
coordinates specify the gene's position along the length of a chromosome,
typically measured in base pairs (bp) or kilobases (kb).
Gene Maps
Gene locations are represented on gene maps or genetic maps, which provide a graphical representation of the
relative positions of genes on a chromosome. These maps are essential for genetic research and linkage studies.

Gene Identifier
Genes are typically identified by a specific name or symbol, such as "BRCA1" or "TP53." These identifiers help
researchers locate and study specific genes within the genome.

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Genome Sequencing
Advances in genomics, such as whole-genome sequencing, have allowed scientists to determine the precise
location of genes within the entire genome of an organism.
Locating a protein-coding gene in a genome sequence is easy if the amino acid sequence of the protein
product is known, allowing the nucleotide sequence of the gene to be predicted, or if the corresponding
cDNA has been previously sequenced. But for many genes there is no prior information that enables the
correct DNA sequence to be recognized.
ORF
Open Reading Frame is a DNA sequence that has the potential to be translated into a protein. ORFs are
typically identified based on the presence of a start codon (usually AUG), a series of codons, and a stop
codon (such as UAA, UAG, or UGA). These elements indicate the beginning and end of a protein-coding
region within a gene. Identifying ORFs is an essential step in gene annotation and the study of gene
expression and protein synthesis. ORFs play a crucial role in understanding the functional aspects of genes
and their products in molecular biology research.
Simple open reading frame (ORF) scans are less effective at locating genes in eukaryotic genomes compared to
prokaryotic genomes
Two approaches are being followed for gene sequencing:
CODON BIAS
Codon bias, also known as synonymous codon usage bias, refers to the non-random usage of different codons (triplets of
nucleotides in the genetic code) that code for the same amino acid during protein synthesis. In other words, for a given
amino acid, there can be multiple codons that specify it, and codon bias describes the preferential use of some codons over
others in a particular organism's genes.
For instances; There are 6 codes for leucine but it is generally coded by CTG.
EXON-INTRON BOUNDARIES
The exon-intron boundaries are defined by specific sequences found at the junctions of exons and introns. In humans and
many other organisms, these sequences include:
5' Splice Site (Donor Site): The 5' splice site marks the beginning of an intron and is typically characterized by the
presence of the nucleotide sequence GU at the exon-intron junction.
3' Splice Site (Acceptor Site): The 3' splice site marks the end of an intron and is typically characterized by the presence
of the nucleotide sequence AG at the intron-exon junction.
These specific sequences at the exon-intron boundaries are essential for the spliceosome, a complex of RNA and protein
molecules, to recognize and process the gene sequence correctly during the splicing process. The spliceosome removes the
introns and joins the exons together to create the mature mRNA that is then translated into proteins.
Gene Databases
Gene databases, like GenBank and Ensembl, compile and organize information about gene locations, sequences,
and associated data. Researchers can access these databases to find details about specific genes.

Gene Regulation
Understanding a gene's location is essential for studying its regulation, as regulatory elements, including
promoters and enhancers, are often located near the gene they control.

Structural Genomics
Gene location is a fundamental aspect of structural genomics, which aims to determine the 3D structures of
proteins encoded by genes. Knowing the gene's location helps in protein structure prediction.
Structural Genomics
Gene location is a fundamental aspect of structural genomics, which aims to determine the 3D
structures of proteins encoded by genes. Knowing the gene's location helps in protein structure
prediction
STRUCTURE OF GENE
The structure of a gene refers to the specific organization and sequence of DNA that carries the
genetic information necessary for the synthesis of a functional product, typically a protein or
functional RNA molecule. Genes are the fundamental units of heredity, and they play a crucial
role in determining an organism's traits and characteristics.
Promoter Region
Genes usually start with a promoter region, which is a sequence of DNA that signals the
beginning of transcription, the process by which the gene's information is copied into RNA.
Promoters are essential for the regulation of gene expression.
Transcription Start Site (TSS)
The transcription start site marks the exact point where transcription begins, and it is located within the
promoter region. RNA polymerase, the enzyme responsible for transcription, binds to the TSS.
Transcribed Region
This is the segment of the gene where the actual genetic information is encoded. It consists of
exons and introns.
Exons: Exons are the coding sequences within the gene that contain the instructions for
building a protein or functional RNA molecule. They are transcribed into mRNA and typically
constitute a minority of the gene's sequence.
Introns: Introns are non-coding sequences found within the gene. They are transcribed into pre-
mRNA but are later spliced out during RNA processing to form mature mRNA. Introns were
once thought to be non-functional, but research has shown that they can have regulatory roles.
Terminator Region
The terminator region marks the end of the gene and signals the termination of transcription. It ensures
that the RNA molecule is correctly processed and released.
Regulatory Elements
Genes may contain regulatory elements, such as enhancers and silencers, that
control when and to what extent the gene is transcribed. These elements can be
located within or near the gene.
Structural Elements
In addition to the coding sequences (exons), genes may have other structural elements,
such as untranslated regions (UTRs) that flank the coding sequence and contain signals
for processes like translation and post-transcriptional modifications.
Transcription Factors
Genes are regulated by specific proteins called transcription factors. These factors
bind to the promoter region and other regulatory elements to initiate or inhibit
transcription.
Gene Sequence
The precise sequence of nucleotide bases (adenine, cytosine, guanine, and thymine) in a gene is critical. This
sequence determines the order of amino acids in a protein or the structure of a functional RNA molecule.
Splicing Sites
In genes with introns, splicing sites are sequences that mark the boundaries between exons and introns. These sites
are essential for the removal of introns during RNA processing.