Human Genome Organization

Flashcards covering key vocabulary and concepts related to the human genome organization.

Genome

All of the information in the nucleotide sequences of the organism.

Prokaryotic Genome

The region of the bacterial genome called the nucleoid.

Eukaryotic Genome

Double-stranded linear DNA and organelle DNA.

Mitochondrial Genome

An organelle with its own circular DNA.

Plasmid

A double-stranded DNA molecule that can replicate independently of genomic DNA.

Nucleus

The membrane-bound organelle that contains the cell's chromosomes.

Gene

A functional RNA molecule or protein-coding sequence.

Haploid

Having a single set of chromosomes.

Chromatid

One of two identical halves of a replicated chromosome.

Nuclease

An enzyme that cleaves the chains of nucleotides in nucleic acids.

Exon

A coding sequence of a gene that is retained in mature RNA.

Intron

A non-coding segment of a gene that is removed during RNA splicing.

Transcription

The process by which RNA is synthesized from a DNA template.

Translation

The process of synthesizing proteins from mRNA.

Methylation

The addition of a methyl group to DNA, affecting gene expression.

Histone

A protein that helps package DNA into a compact, dense shape.

Chromatin

A complex of DNA and protein found in eukaryotic cells.

Genome Size (C-value)

The total amount of DNA contained within one copy of a single genome.

Nucleotide

The building block of nucleic acids, consisting of a nitrogen base, sugar, and phosphate group.

Base Pair

Two nucleotides on opposite complementary DNA strands that are connected via hydrogen bonds.

Double Helix

The structure formed by double-stranded DNA, resembling a twisted ladder.

Polynucleotide Chain

A linear sequence of nucleotides linked by phosphodiester bonds.

Packaging

The arrangement of DNA into chromatin and chromosomes.

Nucleosome

The basic unit of DNA packaging, consisting of a segment of DNA wound around histone proteins.

Alternative Splicing

The process by which different combinations of exons are joined to produce multiple mRNA variants from one gene.

Transposable Element

DNA sequences that can change their position within the genome.

Repetitive DNA

Sequences that are repeated multiple times in the genome.

Intergenic Region

Regions of DNA that do not code for proteins or RNA molecules.

Pseudogene

A non-functional gene that resembles a functional gene but has lost its original function.

Mitochondrial DNA (mtDNA)

Circular DNA found in mitochondria, inherited maternally.

Gene Expression

The process by which information from a gene is used to synthesize a functional gene product.

Polypeptide

A chain of amino acids that makes up a protein.

Heterochromatin

Tightly packed form of DNA that is transcriptionally inactive.

Euchromatin

Less condensed form of DNA that is actively transcribed.

RNA Polymerase II

The enzyme responsible for synthesizing mRNA from a DNA template.

Enhancer

A DNA sequence that increases the likelihood of transcription of a particular gene.

Promoter

A region of DNA that initiates transcription of a particular gene.

RNA Splicing

The modification of mRNA before it is expressed, involving the removal of introns.

Telomere

The protective cap at the end of each chromosome that shortens with each cell division.

Centromere

The region of the chromosome where sister chromatids are joined and where spindle fibers attach during cell division.

Chromosomal Aberration

A change in the normal structure or number of chromosomes.

DNA Replication

The process by which DNA makes a copy of itself during cell division.

Viral Genome

The genetic material of a virus, which may consist of DNA or RNA.

Major Groove

The larger of two grooves in the DNA double helix where proteins can bind.

Minor Groove

The smaller of two grooves in the DNA double helix.

Replicon

A portion of DNA that replicates as a unit during DNA replication.

Oncogene

A gene that has the potential to cause cancer when mutated.

Genomic Library

A collection of the total genomic DNA from a single organism.

Transcription Factors

Proteins that assist in the initiation of transcription.

Nucleotide Excision Repair

A DNA repair mechanism that removes damaged DNA segments.

Mutation

A change in the nucleotide sequence of DNA.

Inheritance

The transmission of genetic characteristics from parents to offspring.

Genome Sequencing

The process of determining the complete DNA sequence of an organism's genome.

Restriction Enzyme

An enzyme that cuts DNA at specific sequences.

Nucleotide Substitution

A type of mutation where one nucleotide is replaced by another.

Backbone of DNA

Formed by sugar and phosphate groups in a polynucleotide strand.

DNA Ligase

An enzyme that joins DNA strands together by forming phosphodiester bonds.

Gene Therapy

An experimental technique to treat or prevent disease by altering genes.