8.5
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Mistakes during DNA replication can cause mutations, such as inserting the wrong base into the growing DNA strand. Most replication errors occur because DNA polymerases work fast, but they can proofread and correct some mismatches. Mutations also result from damage to DNA that polymerases have trouble replicating over. When proofreading and repair fail, a permanent change in the DNA sequence, or mutation, results. Mutations may occur in any cell and be passed to offspring if they happen in sex cells, and can have harmful effects like causing cancer, but also drive evolution by creating genetic variation in traits.
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- The elbow joint is a hinge joint formed by the tro
8.4
Synovial joints have six general features including articular cartilage, a joint cavity, an articular capsule, synovial fluid, ligaments, and blood vessels. They allow movements like gliding, angular movements like flexion and extension, and rotation. Stability is influenced by factors like bone shape, ligaments, and muscle tone. There are six types of synovial joints classified by their shape and motion: plane, hinge, pivot, condylar, saddle, and ball-and-socket.
6.7
Fractures occur when bones break. There are three classifications of fractures based on the position of bone ends, completeness of the break, and whether the skin is penetrated. Treatment involves realigning the broken bone ends through closed or open reduction and immobilizing the bone to heal. Bone repair occurs in four stages - hematoma formation, fibrocartilaginous callus formation, bony callus formation, and bone remodeling to reconstruct the original bone structure.
6.6
Bone remodeling occurs continuously as old bone is removed by osteoclasts and new bone is deposited by osteoblasts. Approximately 5-7% of bone mass is remodeled each week, with spongy bone being replaced about every 3-4 years and compact bone every 10 years. Bone remodeling is regulated by two control loops - hormonal control of blood calcium levels including PTH and calcitonin, and response to mechanical stress based on Wolff's law where bones remodel in response to stresses placed upon them.
6.5
Bone development occurs through two main processes: endochondral ossification and intramembranous ossification. Endochondral ossification forms bones below the skull through replacement of cartilage models with bone tissue in a multi-step process beginning in the second month of development. Intramembranous ossification forms some flat bones of the skull through the direct development of bone within fibrous membranes in mesenchymal tissue. Postnatal bone growth continues through adolescence via growth at the epiphyseal plates of long bones.
6.4
Bones have a complex structure at multiple levels:
- Gross level includes compact bone on the outside and spongy bone on the inside, with membranes like the periosteum covering bones. Long bones have a shaft and ends.
- Microscopic level shows bone is made of osteons containing concentric lamellae, with canals containing blood vessels. Bone cells like osteoblasts and osteoclasts are involved in formation and breakdown.
- Chemical level consists of collagen fibers mineralized with calcium salts to give bone its strength.
6.8
The document discusses three major bone diseases: osteomalacia/rickets caused by vitamin D deficiency which results in soft, weak bones; osteoporosis where bone resorption exceeds formation leading to loss of bone mass and increased fracture risk, particularly in postmenopausal women; and Paget's disease where bone formation and resorption are excessive and disorganized. It also covers age-related changes to bone such as increased formation in childhood balancing resorption in adulthood, and declining bone density with age beginning in the fourth decade of life.
6.3
The document summarizes the classification of bones in the human skeleton. It is divided into two parts:
1) The axial skeleton includes the skull, vertebral column, and rib cage. The appendicular skeleton includes the bones of the upper and lower limbs attached to the axial skeleton by girdles.
2) Bones are also classified by their shape into four categories: long bones are longer than wide and found in the limbs, short bones are cube-shaped in the wrist and ankle, flat bones are thin and curved like those in the skull, and irregular bones have complicated shapes like the vertebrae and hip bones.
6.2
Bones have seven key functions: to provide support for the body and soft organs, protect vital organs like the brain and spinal cord, serve as levers for muscle movement, store minerals and growth factors like calcium and phosphorus, allow for blood cell formation in red bone marrow, store fat for energy, and help regulate hormones through the production of osteocalcin.
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8.5
- 1. © Cengage Learning 2015 8.5 What Causes Mutations? • Mistakes can and do occur during DNA replication • Examples: – The wrong base is added to a growing DNA strand – A nucleotide gets lost, or an extra one slips in
- 2. © Cengage Learning 2015 What Causes Mutations? (cont’d.) • Most replication errors occur because DNA polymerases work very fast • Luckily, most DNA polymerases also proofread their work – They can correct a mismatch by reversing the synthesis reaction to remove the mispaired nucleotide
- 3. © Cengage Learning 2015 What Causes Mutations? (cont’d.) • Replication errors may occur after a cell’s DNA gets broken or damaged – DNA polymerases do not copy damaged DNA very well • When proofreading and repair mechanisms fail, an error becomes a mutation – A permanent change in the DNA sequence of a cell’s chromosome
- 4. © Cengage Learning 2015 What Causes Mutations? (cont’d.) A B
- 5. © Cengage Learning 2015 What Causes Mutations? (cont’d.) • Mutations can form in any type of cell – Those that occur during egg or sperm formation can be passed to offspring • Mutations that alter DNA’s instructions may have a harmful or lethal outcome – Most cancers begin with a mutation • Not all mutations are dangerous – Some give rise to variation in traits; basis for evolution
- 6. © Cengage Learning 2015 Agents of DNA Damage • Ionizing radiation from x-rays, most UV light, and gamma rays may cause DNA damage: – Breaks DNA – Causes covalent bonds to form between bases on opposite strands – Fatally alters nucleotide bases – Causes adjacent nucleotide dimers to form
- 7. © Cengage Learning 2015 Agents of DNA Damage (cont’d.)
- 8. © Cengage Learning 2015 Agents of DNA Damage (cont’d.) a thymine dimer
Editor's Notes
- Figure 8.12 How a replication error can become a mutation.
- Figure 8.13 Exposure to ionizing radiation causes mutations.
- A thymine dimer.