Human Genetics

2.

Molecular Basis of Heredity

2.1.

DNA Structure and Organization

2.1.1.

Double Helix Architecture

2.1.1.1.

Sugar-Phosphate Backbone

2.1.1.2.

Antiparallel Strand Orientation

2.1.1.3.

Major and Minor Grooves

2.1.2.

Nucleotide Components

2.1.2.1.

2.1.2.2.

2.1.2.3.

Base Pairing Rules

2.1.2.4.

Hydrogen Bonding

2.1.3.

Chromatin Structure

2.1.3.1.

Histones and Nucleosome Formation

2.1.3.2.

Chromatin Fiber Organization

2.1.3.3.

Euchromatin vs Heterochromatin

2.1.3.4.

Higher-Order Chromatin Structure

2.2.

DNA Replication

2.2.1.

Semiconservative Replication Model

2.2.1.1.

Meselson-Stahl Experiment

2.2.1.2.

Replication Fork Formation

2.2.2.

Replication Machinery

2.2.2.1.

DNA Polymerases

2.2.2.2.

Helicase Function

2.2.2.3.

Primase Activity

2.2.2.4.

2.2.2.5.

Single-Strand Binding Proteins

2.2.2.6.

2.2.3.

Replication Process

2.2.3.1.

Origins of Replication

2.2.3.2.

Leading Strand Synthesis

2.2.3.3.

Lagging Strand Synthesis

2.2.3.4.

Okazaki Fragment Formation

2.2.3.5.

Proofreading and Error Correction

2.3.

Central Dogma of Molecular Biology

2.3.1.

Information Flow Pathway

2.3.1.1.

DNA to RNA Transfer

2.3.1.2.

RNA to Protein Transfer

2.3.2.

Exceptions to Central Dogma

2.3.2.1.

Reverse Transcription

2.3.2.2.

RNA-dependent RNA Synthesis

2.4.

Gene Expression Mechanisms

2.4.1.

Transcription Process

2.4.1.1.

RNA Polymerase Types

2.4.1.2.

Promoter Recognition

2.4.1.3.

Transcription Initiation

2.4.1.4.

Elongation and Termination

2.4.1.5.

Transcription Factors

2.4.2.

2.4.2.1.

2.4.2.2.

3' Polyadenylation

2.4.2.3.

Splicing Mechanisms

2.4.2.4.

Alternative Splicing

2.4.2.5.

2.4.3.

Translation Process

2.4.3.1.

Genetic Code Properties

2.4.3.2.

2.4.3.3.

Start and Stop Codons

2.4.3.4.

Ribosome Structure and Function

2.4.3.5.

Transfer RNA Structure

2.4.3.6.

Translation Initiation

2.4.3.7.

Elongation Cycle

2.4.3.8.

Translation Termination

2.5.

Gene Expression Regulation

2.5.1.

Transcriptional Control

2.5.1.1.

Promoter Elements

2.5.1.2.

Enhancers and Silencers

2.5.1.3.

Transcription Factor Binding

2.5.1.4.

Chromatin Remodeling

2.5.2.

Post-transcriptional Regulation

2.5.2.1.

mRNA Stability Control

2.5.2.2.

Alternative Splicing Regulation

2.5.2.3.

RNA Localization

2.5.3.

Translational Control

2.5.3.1.

Ribosome Binding Site Accessibility

2.5.3.2.

Translational Repression

2.5.3.3.

Ribosome Profiling

2.5.4.

Epigenetic Mechanisms

2.5.4.1.

DNA Methylation Patterns

2.5.4.2.

Histone Modifications

2.5.4.3.

Chromatin Remodeling Complexes

2.5.4.4.

Non-coding RNA Regulation

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1. Introduction to Human Genetics

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3. Human Chromosomes and Cytogenetics