Human Genetics: Concepts and Applications (Lewis), 9th Edition

Chapter 3: Meiosis and Development

Chapter Outline

CHAPTER OVERVIEW

1. The male and female reproductive systems have paired gonads that produce reproductive cells (oocytes and sperm), tubes to transport these cells, and glands whose secretions enable the cells to function.

1. Sperm develop in the seminiferous tubules, which wind inside the testes in the scrotum.
2. Sperm mature and collect in each epididymis, which lead from each testis into the vasa deferentia. These tubes join at the urethra in the penis.
3. The prostate gland, seminal vesicles, and bulbourethral glands contribute secretions to the semen.
4. About 200-600 million mature sperm are discharged per ejaculation.

1. Oocytes develop in the ovaries.
2. Each month, one oocyte is released from an ovarian follicle and is captured by fingerlike projections of a fallopian tube.
3. Each fallopian tube leads to the uterus, which nurtures a fertilized ovum.
4. The lower end of the uterus narrows to form the cervix, which opens into the vagina.
5. Hormones control oocyte development and release, as well as uterine preparation.

1. Meiosis forms haploid (n) gametes (sperm and oocytes) from diploid (2n) germline cells.
2. Meiosis conserves chromosome number and generates genetic variability.
3. Stages of meiosis: Meiosis I and Meiosis II.
4. Each meiotic division proceeds through prophase, metaphase, anaphase, and telophase.
5. Reduction division (meiosis I) halves the chromosome number.
6. Equational division (meiosis II) mitotically divides each of the two cells from meiosis I, yielding four haploid cells.
7. Chromosome number is halved because there are two cell divisions, but only one DNA replication.
8. Crossing over (occurring during prophase I) and independent assortment (due to the random alignment of homologous chromosomes on the equator during metaphase I) generate genetic diversity.
9. For 23 pairs of chromosomes, over 8 million combinations are possible.
10. Over 70 trillion combinations are possible when a sperm fertilizes an egg.

1. Diploid spermatogonia divide mitotically, yielding one stem cell and a primary spermatocyte.
2. In meiosis I, each primary spermatocyte halves its genetic material to form two haploid secondary spermatocytes.
3. In meiosis II, each secondary spermatocyte divides, yielding two equal-sized spermatids.
4. The spermatids mature into spermatozoa that have the characteristic sperm tail.
5. A mature sperm has a tail, body or midpiece, and head region with an acrosome on the front end that contains enzymes that digest the protective layers around an oocyte.
6. Many sperm that carry mutations or are damaged do not swim well and have a disadvantage in fertilizing an egg.

1. A diploid oogonium accumulates cytoplasm and replicates its chromosomes, becoming a primary oocyte.
2. In meiosis I, the primary oocyte divides, forming a small polar body and a large, haploid secondary oocyte.
3. In meiosis II, the secondary oocyte divides, forming another small polar body and a mature ovum.
4. The million or more oocytes that females are born with arrest at prophase I. At ovulation, meiosis continues and is completed after the secondary oocyte is fertilized. If fertilization does not occur, the secondary oocyte degenerates and leaves the body in the menstrual flow.
5. Only about 400,000 oocytes survive past puberty. Of these only about 400 oocytes will be ovulated during the reproductive life of the woman.

1. Intercourse deposits sperm in the vagina. A sperm cell can survive there up to 6 days, but the oocyte can be fertilized only within 12 to 24 hours of ovulation.
2. In a woman's body, sperm are capacitated and are chemically attracted to the oocyte.
3. When a sperm cell meets an oocyte, its acrosome bursts and releases enzymes that cut through the oocyte's protective layer.
4. The sperm's penetration of the oocyte triggers chemical and electrical changes in the oocyte's surface that block entry of other sperm.
5. The two sets of chromosomes (pronuclei) meet and merge, forming a zygote.

1. The zygote divides mitotically a day after fertilization, beginning cleavage. A morula (solid ball) forms after several cell divisions, which hollows to form a blastocyst (hollow ball).
2. The blastocyst implants in the uterine lining. The outermost cells (trophoblast) secrete human chorionic gonadotropin (hCG), which prevents menstruation.
3. hCG can be detected in a woman's blood or urine and is an indicator of pregnancy.

1. During week 2 of pregnancy the amniotic cavity forms.
2. Then, the primary germ layers, termed ectoderm, endoderm, and mesoderm develop.
3. The growing structure is now termed a gastrula, or primordial embryo.
4. Cells of the primary germ layers are normally fated to develop into specific types of differentiated cells.
5. Research on fruit flies has shown that genes called homeotics control this process. Mutations in these genes produce abnormalities in animals and humans.

1. Chorionic villi develop during week 3 and extend toward the woman's bloodstream, facilitating diffusion of nutrients and oxygen to the embryo and removal of its wastes.
2. The placenta forms by 10 weeks and connects the woman to the fetus. It secretes hormones that alter the woman's metabolism to send nutrients to the fetus.
3. The yolk sac and allantois manufacture blood cells and the umbilical cord forms. The amniotic sac expands with fluid that cushions the embryo.
4. Amniocentesis and chorionic villus sampling can check fetal chromosomes early in development.
5. The umbilical cord is a prenatal source of pluripotent stem cells for research and medical therapy.

1. Monozygotic twins result from splitting of one fertilized ovum.
2. Dizygotic twins result from two fertilized ova.
3. Conjoined twins arise when two newborns share tissues or organs.

1. Organogenesis occurs as cells of the germ layers develop into distinct organs.
2. During week 3, the primitive streak appears, followed rapidly by development of the central nervous system, heart, notochord, neural tube, limbs, digits, and facial features.
3. If the neural tube does not completely close, a birth defect termed neural tube defect (NTD) develops.
4. By week 8, all organs have begun to develop.
5. The prenatal human is now termed a fetus.

1. The fetus begins to resemble a newborn as structures grow, specialize, and interact.
2. Bone replaces cartilage in the skeleton and sex organs become distinct.
3. During the first trimester, the fetus displays neuromuscular activity such as sucking its thumb, breathing in and out and kicking.
4. In the second trimester, the fetus normally curls into the characteristic head to knee "fetal" position. Kicking and other activities of the fetus may be felt by the woman.
5. In the final trimester, the fetus grows rapidly. Fat fills out the skin. The digestive and respiratory systems mature last.
6. The baby is ready to be born at around 266 days after fertilization.

1. The critical period is when a prenatal structure is sensitive to damage by a faulty gene or environmental insult.
2. Most birth defects originate in the embryo stage, and are generally more severe than problems that arise later in pregnancy.
3. Teratogens are chemicals or agents that cause birth defects (i.e. alcohol, cigarettes, certain nutrients, malnutrition, occupational hazards, and infectious agents).

1. Genetic variations may determine susceptibility to teratogens.
2. Thalidomide affects the development of limb buds in the early embryo.
3. Current evidence for deleterious effects of prenatal cocaine exposure are ambiguous and the source of continued research.
4. Cigarette smoke can result in growth deficiencies and miscarriage.
5. Alcohol can result in fetal alcohol syndrome characterized by growth problems and mental retardation.
6. Excess nutrients such as vitamin A can affect normal development.
7. Occupational hazards such as radiation and toxic chemicals (i.e. lead, mercury, etc.) can cause a variety of birth defects.
8. Infectious agents such as HIV, rubella (German measles), herpes simplex and hepatitis can harm a fetus or newborn.
9. Women who contract rubella during the first trimester run a high risk of bearing children with cataracts, deafness, and heart defects. A fetus exposed to rubella during the second or third trimesters may be born with learning disabilities, speech and hearing problems, and juvenile onset diabetes.
10. Forty percent of babies exposed to vaginal herpes lesions become infected and half of these die.

1. Aging is genetically controlled and occurs throughout life as cells die.
2. Aging usually becomes more apparent after age thirty.
3. Individuals that suffered from IUGR (intrauterine growth retardation) appear to have a higher risk of health problems as adults than the average individual.
4. Single gene recessive disorders generally strike early in the life of the patient.
5. Dominantly inherited disorders may not affect individuals until early to middle adulthood.

1. Rapid aging syndromes are rare but important to our understanding of the genetics of aging.
2. A common feature of most of the rapid aging disorders is the inability to effectively repair DNA
3. Werner syndrome has an adult onset that is usually apparent by age 20. Death usually occurs before age 50.
4. Hutchinson-Gilford syndrome is an extremely rare disorder caused by a single base pair change in the gene for lamin A. Affected patients show accelerated aging and do not usually survive through their teens.
5. Cells derived from progeroid syndrome patients undergo fewer cell divisions in culture than normal cells.

1. Adoption studies indicate an inherited component to longevity.
2. Genes influence longevity, but environmental factors are important too.
3. A region of chromosome 4 may influence human life span.
4. Genomic comparisons may help to identify specific genes that contribute to longevity.