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ANATOMY AND PHYSIOLOGY

Introduction

Chromosomes are the genetic material found in all cells. They consist of proteins and deoxyribonucleic acid (DNA). Each cell has 23 pairs of chromosomes, including one pair of sex chromosomes and 22 pairs of non-sex chromosomes. There are two sex chromosomes, called the X chromosome and the Y chromosome. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. Autosomes are the non-sex chromosomes that are numbered chromosome 1 through 22. Each autosomal gene has two copies and one copy (or allele) is inherited from each parent. Variations of the genes are also known as alleles.

A person inherits genes from his or her parents. One gene is inherited from the mother, and the other gene is inherited from the father. Each parent can only pass one of their genes on to the child. Which gene gets passed down is determined purely by chance. When both alleles of a gene are the same, a person is said to be homozygous for that gene. If different alleles of the gene are inherited from each parent, the person is said to be heterozygous for that gene. Autosomal recessive disorders are inherited disorders caused by a mutation in a gene. In order to have an autosomal recessive disorder, both copies of the gene (one inherited from each parent) need to contain the mutation. In other words, to be affected by an autosomal recessive disorder, the person needs to be homozygous for that gene. This is different from autosomal dominant disorders, for which a person only needs to inherit one copy of the mutant gene to be affected by the disorder. When only one mutant gene is inherited in an autosomal recessive disorder, the person does not have the disease and is known as a genetic carrier of the disease. Carriers are able to pass their mutant gene to their children. If both parents are genetic carriers of an autosomal recessive disorder, there is a one in four chance that the child will have the INTEGUMENTARY SYTEM The integumentary system consists of the skin, hair, nails, the subcutaneous tissue below the skin,and assorted glands.The most obvious function of the integumentary system is the protection that the skin gives to underlying tissues. The skin not only keeps most harmful substances out, but also prevents the loss of fluids. A major function of the subcutaneous tissue is to connect the skin to underlying tissues such as muscles. Hair on the scalp provides insulation from cold for the head. The hair of eyelashes and eyebrows helps keep dust and perspiration out of the eyes, and the hair in our nostrils helps keep dust out of the nasal cavities. Any other hair on our bodies no longer serves a function, but is an evolutionary

causing it to spread quickly. Ceruminous glands produce earwax which keeps the outer surface of the eardrum pliable and prevents drying. Its other main functions are insulation and temperature regulation. Skin In zoology and dermatology. Mammary glands produce milk. melanin. often giving rise to discoloration and depigmentation of the skin. as it covers the body. The skin is often known as "the largest organ in the human body". Fingernails give the fingers greater ability to pick up small objects. As the interface with the surroundings. skin is an organ of the integumentary system made up of a layer of tissues that guard underlying muscles and organs. sensation and vitamin D and B synthesis. One form predominantly produced by UV light. Skin is considered one of the most important parts of the body. Sudoriferous glands are sweat producing glands. is particularly invasive. it plays the most important role in protecting against pathogens. There are four types of glands in the integumentary system: Sudoriferous glands. and people who lack the genes for these enzymes suffer high rates of skin cancer. provided by melanocytes. It also contains DNA repair enzymes which reverse UV damage. Sebaceous glands are oil producing glands which help inhibit bacteria. Ceruminous glands. Human skin pigmentation varies among populations in a striking manner. Damaged skin will try to heal by forming scar tissue. and Mammary glands. These are important to help maintain body temperature. Nails protect the tips of fingers and toes from mechanical injury. appearing to have the largest . and can often be deadly. Skin has pigmentation. keep us waterproof and prevent our hair and skin from drying out.remnant. malignant melanoma. Sebaceous glands. This applies to exterior surface. which absorbs some of the potentially dangerous radiation in sunlight. This has sometimes led to the classification of people(s) on the basis of skin color.

as it weighs more than any single internal organ. 60. it applies to weight.0 square meters.surface area of all the organs.5-2. For the average adult human. and more than a thousand nerve endings. The average square inch of skin holds 650 sweat glands. The use of natural or synthetic cosmetics to treat the appearance of the face and condition of the skin (such as pore control and black head cleansing) is common among many cultures. accounting for about 15 percent of body weight. most of it is between 2-3 mm thick. 20 blood vessels. Layers .000 melanocytes. the skin has a surface area of between 1. Moreover.

lucidum. The epidermis can be further subdivided into the following strata (beginning with the outermost layer): corneum. glands and lymphatic tissue. The main cell types are fibroblasts. adipocytes (fat storage) and macrophages. basale. This process is called keratinization and takes place within about 30 days. Sebaceous glands are exocrine glands which produce. water-proofing. Erector muscles. and is nourished by diffusion from the dermis. which is not usually classified as a layer of skin. attached between the hair papilla and epidermis. resulting in the hair fiber pulled upright and consequentially goose bumps. Below these layers lies the hypodermis or subcutaneous adipose layer. granulosum. Blood capillaries are found beneath the epidermis. They move up the strata changing shape and composition as they differentiate. The main type of cells which make up the epidermis are keratinocytes. with melanocytes and Langerhans cells also present. Cells are formed through mitosis at the innermost layers. can contract. They eventually reach the corneum and become sloughed off (desquamation). . nerves. and are linked to an arteriole and a venule. Skin is composed of the epidermis and the dermis. elastin and reticular fibers are present. It consists of loose connective tissue otherwise called areolar connective tissue . It contains no blood vessels. spinosum. smooth muscle. The outermost epidermis consists of stratified squamous keratinizing epithelium with an underlying basement membrane.collagen. This layer of skin is responsible for keeping water in the body and keeping other harmful chemicals and pathogens out. The dermis lies below the epidermis and contains a number of structures including blood vessels. Arterial shunt vessels may bypass the network in ears. inducing expression of new types of keratin genes.The skin has two major layers which are made of different tissues and have very different functions. a mixture of lipids and waxy substances: lubrication. the nose and fingertips. hair follicles.

The reticular layer is more dense and is continuous with the hypodermis. Fat serves as padding and insulation for the body. It consists of loose connective tissue and elastin. Papillary ridges make up the lines of the hands giving us fingerprints. Sweat Glands open up via a duct onto the skin by a pore.softening and antibactericidal actions are among the many functions of sebum. The dermis is made of an irregular type of fibrous connective tissue consisting of collagen and elastin fibers. macrophages and adipocytes (the hypodermis contains 50% of body fat). Its purpose is to attach the skin to underlying bone and muscle as well as supplying it with blood vessels and nerves. The main cell types are fibroblasts. and lies below the dermis. It contains the bulk of the structures (such as sweat glands). It can be split into the papillary and reticular layers. The reticular layer is composed of irregularly arranged fibers and resists stretching. It is composed of loosely arranged fibers. The papillary layer is outermost and extends into the epidermis to supply it with vessels. The hypodermis is not part of the skin. Functions .

cold. and tissue injury. Langerhans cells in the skin are part of the immune system Skin contains a variety of nerve endings that react to heat. Erector pili muscles are significant in animals. Dilated blood vessels increase perfusion and heat loss while constricted vessels greatly reduce cutaneous blood flow and conserve heat.Skin gives an anatomical barrier between the internal and external environment in bodily defense. The skin contains a blood supply far greater than its requirements which allows precise control of energy loss by radiation. vibration. touch. see somatosensory system and touch. pressure. convection and conduction. .

The hypothalamus senses core temperature directly. The sweat glands are controlled by sympathetic cholinergic nerves which are controlled by a center in the hypothalamus.Sweat Glands A diagrammatic sectional view of the skin (magnified). soles of feet. but are lacking in some marine and fur-bearing species. These produce sweat that is composed chiefly of water (99%) with various salts. Sweat gland labeled as "sudoriferous gland" at center right. The primary function is body temperature regulation. Eccrine sweat glands are exocrine glands distributed over the entire body surface but are particularly abundant on the palms of hands. Eccrine sweat glands are coiled tubular glands derived leading directly to the most superficial layer of the epidermis (out layer of skin) but extending into the inner layer of the skin (dermis layer). and on the forehead. They are distributed over almost the entire surface of the body in humans and many other species. and also has input from temperature receptors in .

Apocrine sweat glands essentially serve as scent glands. these sweat glands are modified to produce wholly different secretions. In some areas of the body. Other glands. The concentration of sodium varies from 35–65 mmol/l and is lower in people acclimatised to a hot environment. and other wastes. such as Mammary glands. are greatly enlarged and modified to produce milk. urea. The sweat of other species generally differ in composition. due to the bacteria that break down the organic compounds in the sweat from these glands. or more precisely: the sweat already present in the tubule is squeezed out.to mid-puberty (approximately age 15) and release more than normal amounts of sweat for approximately a month and subsequently regulate and release normal amounts of sweat after a certain period of time. Apocrine Apocrine sweat glands only develop during early. Human eccrine sweat is composed chiefly of water with various salts and organic compounds in solution. It contains minute amounts of fatty materials. along with other thermoregulatory processes.the skin and modifies the sweat output. including the cerumen ("wax") of the outer ear. Emotional stress increases the production of sweat from the apocrine glands. These glands are mainly present in the armpits and around the genital area and their activity is the main cause of sweat odor. Apocrine sweat glands produce sweat that contains fatty materials. .

These glands exist in humans throughout the skin except in the palms of the hands and soles of the feet. In the glands. Sebaceous glands can usually be found in hair-covered areas where they are connected to hair follicles to deposit sebum on the hairs. Sebum acts to protect and waterproof hair and skin. The structure consisting of hair. hair follicle and sebaceous gland is also known as pilosebaceous unit. . meaning fat or tallow) that is made of fat (lipids) and the debris of dead fat-producing cells. labia minora and nipples. penis. brittle. eyelids. as is mucopurulent discharge. Sebum is the cause of some people experiencing "oily" hair if it is not washed for several days. and bring it to the skin surface along the hair shaft. Earwax is partly sebum. and keep them from becoming dry. and cracked. Sebaceous glands are also found in non haired areas of lips. They secrete an oily substance called sebum (Latin. The sebaceous glands are glands found in the skin of mammals. but its bacterial breakdown can produce odors. sebum is produced within specialized cells and is released as these cells burst. sebaceous glands are thus classified as holocrine glands.Sebaceous Glands Schematic view of a hair follicle with sebaceous gland. here the sebum reaches the surface through ducts. Sebum is odorless. It can also inhibit the growth of microorganisms on skin. the dry substance accumulating in the corners of the eye after sleeping.

The prescription drug isotretinoin significantly reduces the amount of sebum produced by the sebaceous glands. the lipid content consists of about 25% wax monoesters. A blocked sebaceous gland can result in a sebaceous cyst. The activity of the sebaceous glands increases during puberty because of heightened levels of androgens. 16% free fatty acids. and 12% squalene. The composition of sebum varies from species to species. and is used to treat acne. a "waxy" or "cheesy" white substance coating the skin of newborns. Sebaceous glands are involved in skin problems such as acne and keratosis pilaris. 41% triglycerides. The preputial glands of mice and rats are large modified sebaceous glands that produce pheromones.A hair follicle with associated structures. in humans. The extreme use (up to 10 times doctor prescribed amounts) of anabolic steroids by bodybuilders to prevent weight loss tend to stimulate the sebaceous glands which can cause acne. The sebaceous glands of a human fetus in utero secrete a substance called Vernix caseosa. .

It plays a vital role in the human ear canal. is a yellowish. Earwax. Excess or impacted cerumen can press against the eardrum and/or occlude the external auditory canal and impair hearing.Ceruminous glands Wet-type human earwax on a cotton swab. waxy substance secreted in the ear canal of humans and many other mammals. It is a mixture of viscous secretions from sebaceous glands and less-viscous ones from modified apocrine sweat glands. and also provides some protection from bacteria. Production. fungus. assisting in cleaning and lubrication. also known by the medical term cerumen. and insects. A comprehensive review of the physiology and pathophysiology of cerumen can be found in Roeser and Ballachanda. . composition. and different types Cerumen is produced in the outer third of the cartilaginous portion of the human ear canal.

Cleaning of the ear canal occurs as a result of the "conveyor belt" process of epithelial migration. and accelerate towards the entrance of the ear canal.Two distinct genetically determined types of earwax are distinguished -. whereas Caucasians and Africans are more likely to have the wet type (honey-brown to darkbrown and moist). Cerumen type has been used by anthropologists to track human migratory patterns. aided by jaw movement. dust. and particulate matter that may have gathered in the canal. The difference in cerumen type has been tracked to a single base change (an single nucleotide polymorphism) in a gene known as "ATP-binding cassette C11 gene". Jaw . Function Wet-type earwax fluoresces weakly under ultraviolet light.the wet-type which is dominant. taking with it any dirt. such as those of the Inuit. The researchers conjecture that the reduction in sweat was beneficial to the ancestors of East Asians and Native Americans who are thought to have lived in cold climates. this mutation also reduces sweat production. In addition to affecting cerumen type. Cells formed in the center of the tympanic membrane migrate outwards from the umbo (at a rate equivalent to that of fingernail growth) to the walls of the ear canal. The cerumen in the canal is also carried outwards. and the dry type which is recessive. Asians and Native Americans are more likely to have the dry type of cerumen (grey and flaky).

Staphylococcus aureus. In wet-type cerumen at least. Cerumen has been found to be effective in reducing the viability of a wide range of bacteria (sometimes by up to 99%). While studies conducted up until the 1960s found little evidence supporting an antibacterial role for cerumen. and many long-chain fatty acids and alcohols. These antimicrobial properties are due principally to the presence of saturated fatty acids. more recent studies have found that cerumen provides some bactericidal protection against some strains of bacteria. especially. Lubrication prevents desiccation and itching of the skin within the ear canal (known as asteatosis). (http://en.1 in normal individuals).movement assists this process by dislodging debris attached to the walls of the ear canal. The growth of two fungi commonly present in otomycosis was also significantly inhibited by human cerumen. to the relatively low pH of cerumen (typically around 6. and many variants of Escherichia coli.wikibooks. squalene. including Haemophilus influenzae. lysozyme and. The lubricative properties arise from the high lipid content of the sebum produced by the sebaceous glands. these lipids include cholesterol.org/wiki/Human_Physiology/Integumentary_System) . increasing the likelihood of its extrusion.

The nervous system directs the complex processes of the body's internal environment and also provides a link to the external world. This allows us to respond to changes both from internal sources as well as form external stimuli. it appears white because it contains a lot . the eyes. These include our sense organs. If you slice through some fresh brain or spinal cord you will find some areas appear grey whilst other ares appear rather white. which includes all nerves. The nervous system is broken down into two major part: the central nervous system.The Nervous System Conditions both within the body and in the environment are constantly changing. which includes the brain and spinal cord. our sense of taste. The white matter consists of axons. Central Nervous System The Central Nervous System consists of the Brain and Spinal Cord. as well as our ability to feel pain. which carry impulses to and from the brain and spinal cord. the ears. and the peripheral nervous system. smell and touch. It contains millions of neuons (nerve cells).

The myelin sheath insulates an axon from its neighbours. The parasympathetic nervous system activates tranquil functions. This means that nerve cells can conduct electrical messages without interfering with one another. increasing the release of sugar from the liver into the blood. The grey matter consists of cell bodies and the branched dendrites which effectively connect them together. So this area is mainly cytoplasm of nerve cells which is why it appears white. and other activities generally considered as fight-or-flight responses (responses that serve to fight off or retreat from danger). For example. the sympathetic system accelerates the heartbeat. Generally. The sympathetic nervous system is involved in the stimulation of activities that prepare the body for action. while the parasympathetic slows the heartbeat.of fatty material called myelin. Each system is stimulated as is appropriate to maintain homeostasis . both sympathetic and parasympathetic systems target the same organs. but often work antagonistically. such as stimulating the secretion of saliva or digestive enzymes into the stomach and small intestine. such as increasing the heart rate.

coughing and swallowing. This part of the brain is responsible for several vital autonomic centers including: • • • the respiratory center. The medulla also controls other reflex actions including vomiting. Medulla Oblongata The medulla oblongata is located just above the spinal cord. The spinal cord receives signals from the peripheral senses and relays them to the brain. the cardiac center that regulates the rate and force of the heartbeat. the vasomotor center. Brain Stem The brain stem is the part of the brain that connects the cerebrum and diencephalons with the spinal cord. . which regulates the contraction of smooth muscle in the blood vessel.Spinal Cord The spinal cord is a long bundle of neural tissue continuous with the brain that occupies the interior canal of the spinal column and functions as the primary communication link between the brain and the rest of the body. thus controlling blood pressure. sneezing. which regulates breathing.

The midbrain is also a major relay center for auditory information. The pons. Diencephalon The diencephalons is located between the cerebrum and the mid brain. such as some of the respiratory responses. one reaches the Pons. Thalamus The thalamus is responsible for "sorting out" sensory impulses and directing them to a particular area of the brain. the hypothalamus and the pineal gland. as well as the cerebrum with the spinal cord. The pons lie just above the medulla and acts as a link between various parts of the brain. Midbrain The midbrain extends from the pons to the diecephalon. The midbrain acts as a relay center for certain head and eye reflexes in response to visual stimuli. like the medulla oblongata. The diencephalons houses important structures including the thalamus.Pons Continuing up the brain stem. The pons connect the two halves of the cerebellum with the brainstem. . Nearly all sensory impulses travel through the thalamus. contain certain reflex actions.

appetite. walking and sitting. and translates this information into a form that can be understood. smell. feelings.responsible for learning. reason. including fear. Cerebellum The functions of the cerebellum include the coordination of voluntary muscles. sexual behavior.e. and the maintenance of muscle tone ensuring that the body can adapt to changes in position quickly. • • Motor Functions .the cerebrum receives information from a sense organ. The hypothalamus produces hormones that regulate the secretion of specific hormones from the pituitary. ears. .Hypothalamus The hypothalamus is the great controller of body regulation and plays an important role in the connection between mind and body. the maintenance of balance when standing. eyes. The hypothalamus also maintains water balance. memory and language skills. pleasure and pain. The cerebrum can be divided into 3 major functions: • Sensory Functions . the cerebrum governs higher mental processes including intellect. Cerebrum The largest and most prominent part of the brain. i. taste. and some emotions. memory and recall.all voluntary movement and some involuntary movement.. where it serves as the primary link between the nervous and endocrine systems. Intellectual Functions .

ultranet/BiologyPages/C/CNS.ma.rcn. carry nutrients to the cells and remove waste products from these tissues. Cerebrospinal Fluid The cerebrospinal fluid is a clear liquid that circulates in and around the brain and spinal cord. the arachnoid and the pia matter.html) .Meninges The meninges are made up of three layers of connective tissue that surround and protect both the brain and spinal cord.com/jkimball. The layers include the dura mater. (http://users. Its function is to cushion the brain and spinal cord.

 cells.  Lymph nodes also trap cancer cells and slow the spread of the cancer until they Efferent lymphatic vessels carry the filtered lymph out of the node to continue its are overwhelmed by it. kill pathogens that may be present.  return to the circulatory system. lymphocytes. and some of the fluid. which is the fluid portion of blood. Here waste In another section of the node. The arterial blood that flows out of the heart slows as it moves through a capillary bed (see figure above). . They also remove debris and excess fluid. This slowing allows some plasma to leave the arterioles and flow into the tissues where it becomes tissue fluid.LYMPHATIC SYSTEM Lymph nodes kill pathogens and cancer cells.  Afferent lymphatic vessels carry unfiltered lymph into the node. are filtered out. which are specialized white blood products. This causes the swelling commonly swelling known as swollen glands. The Origin of Lymph Lymph originates as plasma.

Here it enters The remaining 10 percent of the fluid that is left behind is now known as lymph. Approximately 70 percent of these are superficial capillaries that are located near.  cells. surround most of the body’s organs. the lymph must enter the lymphatic system through specialized lymphatic capillaries. It circulates throughout the body and is cleansed by being filtered by the kidneys. nutrients. At the base of the neck. Also known as intercellular fluid. The remaining 30 percent. or interstitial fluid. Lymph returning to the subclavian veins. and hormones to the cells.  the venous circulation as plasma and continues in the circulatory system. lymph passes through lymph nodes where it is filtered. As it travels through the body. .  Blood Flow Compared with Lymphatic Flow The bloodstream is pumped by the heart. Each of these individual cells is fastened to nearby tissues by an anchoring filament. or just under. The lymphatic system does not have a pump to aid in its flow. it takes with it cellular waste products and protein Approximately 90 percent of this tissue fluid flows into the venules. Lymphatic Capillaries n order to leave the tissues. the skin. which are known as deep lymphatic capillaries. this tissue fluid delivers As this fluid leaves the cells. instead this system is designed so that lymph only flows upward through the body traveling from the extremities (feet and hands) and upward through the body toward the neck. These cells are arranged in a slightly overlapping pattern. Lymphatic capillaries begin as blind-ended tubes that are only a single cell in thickness. the lymph enters the subclavian veins and once again becomes plasma in the bloodstream. much like the shingles on a roof. oxygen.

This does not allow the lymph to leave the capillary. pressure from the fluid surrounding the capillary forces these cells to separate for a moment to allow lymph to enter the capillary. The body has over 300 filtering selected white blood cells and foreign elements. under the arms.As shown in the animation below. these structures are known as lymphatic vessels. which are known as lymphangions have one-way valves to prevent any backward flow. Your lymph node filters fluids. catching viruses. Because of their shape. Then your unique white blood cells destroy the unwanted materials. The main locations are the neck. located in many different areas of the body. Then the cells of the wall close together. Each lymph node is also an important part of your immune system. and in the groin. waste substance. and other unknown materials. bacteria. Like veins. Lymph Nodes The lymph node is a tinny bean-shaped gland. Each angions is a segment created by the space between two sets of valves. lymphatic vessels. The lymph node is a component of the lymphatic system. and nutrients through out your body bloodstream and tissues. . Smooth muscles in the walls of the lymphatic vessels cause the angions to contract sequentially to aid the flow of lymph toward the thoracic region. As they become larger. these vessels are previously referred to as a string of pearls. The lymphatic system moves lymph node fluid. • • • • Deeper within the body the lymphatic vessels become progressively larger and are located near major veins. Instead it is forced to move forward. Lymphatic Vessels The lymphatic capillaries gradually join together to form a mesh-like network of tubes that are located deeper in the body.

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within the kidney. The other components are accessory structures to eliminate the urine from the body. called the renal sinus. remove the wastes. . and the renal artery enters the kidney at the hilum. Portions of the renal cortex extend into the spaces between adjacent pyramids to form renal columns. 6 cm wide. In the adult. The right kidney usually is slightly lower than the left because the liver displaces it downward. The kidneys are the organs that filter the blood. connective tissue renal capsule closely envelopes each kidney and provides support for the soft tissue that is inside. fibrous. called renal papillae. Each kidney is held in place by connective tissue. The hilum leads to a large cavity. A tough. contain straight tubular structures and blood vessels. This means they are retroperitoneal. called perirenal fat. or functional tissue. The wide bases of the pyramids are adjacent to the cortex and the pointed ends. The cortex and medulla make up the parenchyma. and 12 cm long. lie in shallow depressions against the posterior abdominal wall and behind the parietal peritoneum. and is surrounded by a thick layer of adipose tissue. called renal fascia. The kidneys protected by the lower ribs. are directed toward the center of the kidney. The paired kidneys are located between the twelfth thoracic and third lumbar vertebrae. on the medial side. of the kidney. The ureter and renal vein leave the kidney. and excrete the wastes in the urine. called the hilum. one on each side of the vertebral column.RENAL SYSTEM The kidneys are the primary organs of the urinary system. each kidney is approximately 3 cm thick. It is roughly bean-shaped with an indentation. They are the organs that perform the functions of the urinary system. which helps to protect it.

which is located in the renal sinus and is continuous with the ureter.freeed. in the parenchyma (cortex and medulla). called nephrons. A minor calyx surrounds the renal papillae of each pyramid and collects urine from that pyramid. called the glomerulus. From the major calyces the urine flows into the renal pelvis and from there into the ureter. (http://www. An afferent arteriole leads into the renal corpuscle and an efferent arteriole leaves the renal corpuscle. Urine passes from the nephrons into collecting ducts then into the minor calyces.The renal corpuscle consists of a cluster of capillaries. The periphery of the renal pelvis is interrupted by cuplike projections called calyces. surrounded by a double-layered epithelial cup.net/sweethaven/Science/Biology/AnatomyPhysiol/Human01_Lesson Main) . The renal pelvis is a large cavity that collects the urine as it is produced. which monitors blood pressure and secretes renin.The central region of the kidney contains the renal pelvis. Several minor calyces converge to form a major calyx. The juxtaglomerular apparatus. Each kidney contains over a million functional units. is formed from modified cells in the afferent arteriole and the ascending limb of the nephron loop. A nephron has two parts: a renal corpuscle and a renal tubule. called the glomerular capsule.