Human Genome Structure

The entire set of DNA instructions that make up a human organism.

Thread-like structures in the cell nucleus that carry genetic information.

Humans have 46 chromosomes, arranged in 23 pairs. 22 of these pairs are autosomes (non-sex chromosomes), and the remaining pair are sex chromosomes (XX for females, XY for males).

Regions within a gene that code for proteins.

Regions within a gene that do not code for proteins.

Groups of genes with similar functions that often arise from gene duplication during evolution.

Sequences that regulate gene expression, such as promoters and enhancers.

Most of the human genome consists of non-coding DNA, performing important regulatory roles and cellular processes.

DNA segments that can move around the genome, contributing to genetic diversity by creating new gene functions and promoting adaptation.

A process where a single gene can produce multiple protein products through different combinations of coding and non-coding regions.

Non-coding DNA regions that provide flexibility for evolutionary changes without disrupting essential gene functions.

Permanent changes in the DNA sequence, which can occur from errors during replication or environmental factors.

The most common type of genetic variation, involving a single nucleotide change. They contribute to diversity and influence traits like eye color and disease susceptibility.

Variations in the number of copies of specific DNA segments, which can influence susceptibility to cancer and other diseases.

Reversible changes in gene expression without altering the DNA sequence. These changes can be influenced by the environment and are potentially heritable.

Regions of DNA that don't directly code for proteins but play vital roles in gene regulation, maintaining genome integrity, and facilitating evolution.

DNA sequences that regulate gene expression by controlling the timing, location, and level of protein production.

Long RNA molecules that don't code for proteins, involved in gene regulation, chromatin remodeling, and X-chromosome inactivation.

Small RNA molecules that regulate gene expression by binding to mRNA and blocking protein production.

Transposons that are transcribed into RNA, reverse transcribed back into DNA, and then integrate into new genomic locations.

Transposons that move directly as DNA elements and can introduce mutations when they insert into or near genes.

The vast majority of human DNA (about 98-99%) that doesn't directly code for proteins but plays crucial roles in gene regulation, maintaining genome stability, and contributing to evolution.

Protective caps at the ends of chromosomes that prevent degradation during cell division.

Regions on chromosomes where they attach to the mitotic spindle, ensuring proper chromosome segregation during cell division.

The human genome contains approximately 3.2 billion base pairs, making it complex despite not being the largest genome. Humans share 98-99% of their DNA with chimpanzees, but differences in gene regulation and non-coding sequences account for significant phenotypic divergence.

The human genome has about 20,000-25,000 protein-coding genes, which encode proteins responsible for cellular functions.

Alternative splicing refers to the process where a single gene can produce multiple protein variants by combining different exons in different ways. This increases protein diversity.

Telomeres shorten with age, contributing to cellular aging.

Genes involved in brain development, like FOXP2, show distinct variants in humans compared to other primates.

Humans have expanded synaptic plasticity genes, which play a role in higher-order cognitive functions like learning and memory.

Traits determined by a single gene, where mutations can lead to distinct phenotypes or diseases. Example: Sickle cell anemia, caused by a mutation in the HBB gene.

Traits influenced by multiple genes, often interacting with environmental factors. Examples: Height, intelligence, skin color.

A mutation in one copy of a gene is sufficient to cause the disease. Example: Huntington's disease.

Mutations in both copies of a gene are needed for the disease to manifest. Example: Cystic fibrosis.

The interaction between genetic predisposition and environmental factors that influence disease development. Example: A genetic predisposition to obesity can be triggered or exacerbated by a high-fat diet.

Completed in 2003, this project mapped the entire human genome, serving as a foundational reference for genomics research. It helped identify protein-coding genes and regulatory elements.

Aimed to catalogue human genetic variation across populations. It provided insights into SNPs and structural variants, improving our understanding of population genetics and disease susceptibility.

A project focused on understanding the functions of non-coding DNA and its role in gene regulation, leading to breakthroughs in epigenomics and transcriptional regulation.