Four Themes of This Chapter 1. 2. 3. 4. Genes are one part of a complex developmental system. Development involves differentiation. Development involves repeated reorganization and qualitative change. New structures and capacities emerge in an orderly way from those that existed before. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Prenatal period: The period of development prior to birth. Differentiation: A developmental process in which structures and functions become increasingly specialized. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Genetic Processes Chromosomes: Threadlike structures in the nucleus of cells, composed of long molecules of DNA. Genes: Segments of DNA that contain the code for producing a particular protein. A single chromosome may have as many as 20,000 genes. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Mechanisms of Cell Division Somatic cells: The cells that make up the body, not including egg and sperm. Mitosis: The process of cell division by which the body grows and repairs itself, in which genetic material from the parent cell is duplicated in each daughter cell. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The process of mitosis: DNA in the original cell duplicates itself, producing double-stranded chromosomes. Double-stranded chromosomes line up along the cell’s center; each one splits into two single-stranded chromosomes. Single-stranded chromosomes separate and move to opposite sides of the cell. The original cell divides down the middle, producing two new cells that are exact copies of the original, with 46 chromosomes. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Homologues: Two chromosomes that form one of the 23 pairs of human chromosomes and resemble each other in size, shape, and the types of genes they carry. Meiosis: The process of cell division by which egg and sperm cells are formed. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Meiosis Germ cells: The cells from which eggs and sperm are produced. • The DNA in the germ cells duplicates itself. • Homologous chromosomes arrange themselves in pairs, one from each parent. • These chromosomes then separate and move to opposite ends of the cell. • The cell divides; each of the two resulting cells has 23 doublestranded chromosomes (first meiotic division). • The double-stranded chromosomes in these two cells split. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Meiosis These cells divide, resulting in four cells, each with a single set of 23 chromosomes (second meiotic division). For males, all four cells become mature sperm. For females, only one becomes a mature egg. Gamete: A mature reproductive cell. Egg or sperm. Random assortment: Shuffling of chromosomes from the mother and the father during meiosis. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Crossing over: An exchange of corresponding segments of genetic material between homologous chromosomes during meiosis. The chance that a couple will produce two identical children from separate sperm-egg combinations is 1 in 64 trillion. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. How Genes Influence Development Development is the result of an interplay between genes and environment. Genes are turned on or off by chemical signals in the cell. Environmental factors (nutrients, drugs, viruses, etc.) affect the cell. Genes are influenced by the organism’s developmental history. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Interaction of Genes and Environment: The Case of Physical Gender Development Sex chromosomes: In humans, the 23rd pair of chromosomes, which determine genetic gender. Females normally have two X chromosomes. Males, normally one X and one Y chromosome. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Critical period A limited time when some part of a developing organism is susceptible to influences that can bring about specific and permanent changes. Gonads The sex glands: The ovaries and testes. Hormone A chemical produced in the body that regulates physiological processes. Androgens Male sex hormones. Estrogens Female sex hormones. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. How Genes Affect One Another Allele One of several alternate forms of a particular gene. Homozygous Carrying two identical alleles for a particular trait. Heterozygous Carrying two different alleles for a particular trait. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. How Genes Affect One Another Genotype An individual’s genetic makeup. Phenotype An individual’s observable traits. Sex-linked traits Recessive genetic traits that are carried on the X chromosome and are commonly expressed only in males. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Conception The joining of sperm and egg depends on successful completion of a complicated chain of events. Ovulation: Ovum (egg cell) is released into one of the fallopian tubes (the passages that lead into the uterus. Journey down fallopian tube takes days. If sexual intercourse occurs at the appropriate time, the ovum encounters thousands or million of sperm. If a sperm penetrates the ovum’s outer member, a zygote is formed. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Conception Zygote: The cell resulting from the union of a sperm cell with an ovum. Twins can develop if: • Two eggs are released by the ovaries at the same time, • or one fertilized egg splits into two embryos. Dizygotic twins: Fraternal twins, the result of fertilization of 2 ova by different sperm. Monozygotic twins: Identical twins, from the division of one zygote into 2 separate units. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Stages of Prenatal Development Germinal period (conception through week 2): A tiny, self-contained cluster of cells becomes implanted in the lining of the mother’s uterus. Cell differentiation begins. Embryonic period (weeks 3-8): Major organs and body parts develop. Fetal period (week 9 to birth): Organism greatly increases in size and becomes moving, sleeping, waking being. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Germinal Period: Conception Through Week 2 Blastocyst Hollow, ball-like structure into which zygote develops in 1st week. Embryoblast Group of cells at one end of the blastocyst; develops into embryo. Trophoblast Cells in blastocyst that form basis of embryo’s life-support system. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Embryonic Period: Weeks 3 Through 8 Embryo The developing organism during weeks 3 through 8 of prenatal development. Organogenesis The formation of organs and other major body structures. Placenta The Embryo’s Life-Support System A mass of tissue that supplies oxygen and nutrients to embryo, carries away waste products. Umbilical cord A cord containing blood vessels that connects the embryo with the placenta. Amniotic sac Fluid-filled sac that surrounds and protects the embryo and the fetus. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Embryonic Cell Differentiation Endoderm Mesoderm Cells that develop into internal organs such as the stomach, liver, and lungs. Cells that become the muscles, skeleton, and blood. Ectoderm Cells that form the central nervous system, sensory organs, and skin. Embryonic induction Chemical interaction between cells of different tissues; triggers developmental changes. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Timetable for Embryonic Development Cephalocaudal development: The principle that development proceeds from the head downward. Proximodistal development: The principle that development proceeds from the center of the body outward. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Fetal Period: Week 9 to Birth Fetus: The developing organism during weeks 9 through 38 of prenatal development. During this period: • The fetus grows rapidly. • Structures become refined. • The fetus becomes increasingly active and responsive to environment. • Behaviors become increasingly regular and integrated. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. A Closer Look: Prenatal Brain Development Basic structures of the central nervous system form during embryonic period: 18 days after conception, CNS begins formation as ectoderm thickens and begins to fold in upon itself. At 21-22 days, folds in ectoderm grow together to form neural tube. At week 4, neurons are differentiating, and brain and spinal cord have started to form. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. A Closer Look: Prenatal Brain Development During fetal period, neurons form rapidly and brain structures continue to develop: In weeks 10-20, most neurons of the cerebral cortex form. By week 24, synapses begin to form. At birth, volume of infant’s cerebral cortex is 1/3 that of an adult’s, even though it contains almost all the neurons it will ever have. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Mother’s Experience of Pregnancy Trimesters: Three-month periods that correspond to changes in the mother’s experience of pregnancy. Fatigue, drowsiness, swelling, frequent urination, morning sickness are common during the first trimester. Intensity of symptoms varies from woman to woman. Second trimester often the most enjoyable for the mother. Quickening: The first fetal movements, usually felt by mother by end of the fourth month. Third trimester can be trying, as the increase in fetal size pressures her organs. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Problems in Prenatal Development Congenital (birth) defects: Any abnormality present at birth. Genetic defects Single-gene (Mendelian) disorder: Any disorder produced by a single gene. Chromosomal abnormality: Errors in meiosis produce sperm or egg cells with incorrect numbers of chromosomes or damaged chromosomes. example: Huntington disease. example: Down Syndrome (trisomy 21). Sex chromosome abnormalities: When baby receives an abnormal number of sex chromosomes. examples: Klinefelter and Turner syndromes. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Sex Chromosome Abnormalities XXY Klinefelter syndrome: Males may receive an extra X chromosome. XYY XYY syndrome: Males may receive an extra Y chromosome. XXX Trisomy X: Females may receive an extra X chromosome. X0 Turner syndrome: Females may have only one sex chromosome. Many never know they have sex chromosome problems. However, these abnormalities may result in: infertility educational problems reduced IQ Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Environmental Influences alcohol, tobacco, illicit drugs medications diseases maternal stress maternal malnutrition maternal age Teratogen: Any substance in the environment that can cause physical malformations during prenatal development. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Fetal Alcohol Syndrome 1 in 3 babies born to heavy drinkers suffer FAS. Unusual facial characteristics, poor growth, and central nervous system problems. Lower levels of alcohol can cause neurological and behavioral problems. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Detection & Treatment of Fetal Disorders Ultrasound A technique that produces a computer image of a fetus by bouncing sound waves off it. Amniocentesis Withdrawal of amniotic fluid through a needle inserted into the mother’s abdomen to check for chromosomal abnormalities. Chorionic villus A technique for analyzing fetus’s genetic makeup; sampling cells are suctioned from developing placenta through small tube through vagina and cervix or through abdominal wall. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. The Stages of Labor 1. 2. 3. Regular, strong contractions begin 15-20 min. apart; become stronger, more frequent as labor progresses, till cervix is fully opened (dilated). From an hour to more than a day. Normal, head-first deliveries begin 2nd stage with crowning, when crown of infant’s head pushes through cervix into vagina. 30 min. to 2 hrs. Baby is delivered. Ends with delivery of afterbirth, which includes placenta and other membranes. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Apgar Scale Apgar scale – score (from zero to 10) at one and five minutes after birth is the sum of the ratings (0, 1, 2) for heart rate, respiration, reflexes, muscle tone, and skin color. Scores below 5 indicate the need for immediate medical attention. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Anoxia: A disruption in the baby’s oxygen supply during or just after birth. Can occur in two basic ways: 1. Umbilical cord may become pinched during delivery. 2. In breech-birth, infant is delivered in bottom- or feet-first position. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Low Birth Weight and Prematurity Premature: Born less than 35 weeks after conception. Low birth weight: Weighing less than 2500 grams at birth. Very low birth weight: Weighing less than 1500 grams at birth. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Cultural Variation in Childbirth In Holland, most births take place at home with a midwife. Lay midwives deliver many babies in developing countries. The U.S. has changed somewhat over the past 30 years: Childbirth preparation classes, e.g. Lamaze method Decreased anxiety about labor and delivery Less reliance on painkillers Increase in deliveries by cesarean section. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Prenatal Development in Context Genes guide within environmental contexts that include events and developmental changes in the past and present. Genes are activated and deactivated in response to environmental signals. The mother is embedded in physical, social, and cultural environment that can affect her body and her developing child. Copyright © 2004 The McGraw-Hill Companies, Inc. Permission required for reproduction or display.