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Review of Embryology and Genetics PQ1 Dr.

OBJECTIVES - To be able to identify and enumerate the processes involved in human embryological development - To be able to identify and understand the basic and general concepts of genetics EMBRYOLOGY MITOSIS - Process of cell division giving rise to twodaughter cells that are genetically identical to the parent cell - Each daughter cell receives the complete complement of 46 chromosomes, at the end of mitosis. STAGES OF MITOSIS - Prophase o Chromosomes begin to coil, shorten and thicken - Prometaphase o Each chromosome consists of 2 parallel subunits (chromatids) that are joined at a narrow region common to both (centromere) - Metaphase o Chromosomes line up in the equatorial plane o Each chromosome is attached by microtubules extending from the centromere to the centriole, forming the mitotic spindle - Anaphase o Centromere of each chromosome divides o Migration of chromatids to opposite poles of the spindle - Telophase o Chromosomes uncoil and lengthen o Nuclear envelope reforms o Cytoplasm divides - Each daughter cell receives half of all doubled chromosome material. - Maintains the same number of chromosomes as the mother

MEIOSIS - The cell division that takes place in the GERM CELLS to generate male and female gametes, sperm and egg cells. - Requires two cell divisions, MEIOSIS I andMEIOSIS II to reduce the number of chromosomes to the haploid number of 23. - Significance: o Cross-over enhances genetic variability which redistributes genetic material from the parent cells.

1 Saint Louis University School of Medicine Batch 2015

Review of Embryology and Genetics PQ1 Dr. Jandoc

Each germ cell contains a haploid number of chromosomes, so that at fertilization the diploid number of 46 is restored. Meiosis I o Prophase I: Homologous chromosomes further condense and pair. Crossing over occurs. Spindle fibers form between centrioles which move toward opposite poles. o Metaphase I: Microtubule spindle apparatus attaches to chromosomes. Homologous pairs align along spindle equator. o Anaphase I: Homologous pairs of chromosomes separate and move to opposite poles. o Telophase I: one set of paired chromosomes arrives at each pole, and nuclear division begins o Daughter cells: each cell receives exchanged chromosomal material from homologous chromosomes. o Primary oocyte produces only one mature gamete, the mature oocyte.Primary oocyte does not divide equally. 1 mature oocyte + 3 polar bodies. Primary spermatocyte produces 4 spermatids, all of which develop into spermatozoa via spermiogenesis.

Meiosis II o Prophase II: Chromosomesrecondense. Spindle fibers form between centrioles, which move toward opposite poles. o Metaphase II: Microtubule spindle apparatus attaches to chromosomes. Chromosomes align along spindle. o Anaphase II: Sister chromatids separate and move to opposite poles. o Telophase II: Chromatids arrive at each pole, and cell division begins. o Daughter cells: cell division is complete. Each cell ends up with half the original number of chromosomes.

2 Saint Louis University School of Medicine Batch 2015

Review of Embryology and Genetics PQ1 Dr. Jandoc

approximately 24 hours after ovulation (sperm cells: 48-72 hours). SPERMIOGENESIS - Transformation of spermatids into spermatozoa - Formation of the acrosome(part that penetrates membrane and enzyme of ovum) - Condensation of the nucleus (to facilitate swimming) - Formation of neck, middle piece, and tail - Shedding of most of the cytoplasm - Spermatogonium to mature spermatozoon: 64 days

OOGENESIS - Near birth, all primary oocytes have started prophase of meiosis I. - Instead of proceeding into metaphase, they enter the DIPLOTENE stage, a resting stage during prophase and will remain until just before ovulation. - During ovulation, primary oocytes enter metaphase of the 1st meiotic division. - Oocyte maturation inhibitor (OMI), a substance secreted by the follicular cells, brings about the diplotene stage. - Primary oocytes: o At birth: 7000,000 to 2M o Puberty: 400,000 o <500 will be ovulated o Menopause: 70,000 left - Meiosis II is completed only if the oocyte is fertilized. Otherwise, the cell degenerates

FERTILIZATION - Mature egg cell (illustration) o Red: zonapellucida o Yellow: cortical granules rich in enzymes o Blue: sperm - Sperm penetrates zonapellucidaacrosomal reaction penetration through zonapellucida and fusion with egg plasma membrane cortical granules affect zonapellucida, preventing further sperm penetration sperm nucleus enters egg cytoplasm fuse with nucleus of the oocyte zygote - Fertilization is complete when the haploid nucleus from the sperm fuses with the haploid egg nucleus creating the DIPLOID(46 chromosomes) nucleus of the ZYGOTE. - Polar bodies formed degenerate. - Occurs at the fallopian tube (ampulla)

3 Saint Louis University School of Medicine Batch 2015

Review of Embryology and Genetics PQ1 Dr. Jandoc

CLEAVAGE - Occurs during the 1st 4 days after fertilization - The principal developmental mechanism is cell division or mitosis. - Involves a series of cell divisions NOT accompanied by any growth - Takes place in the ampulla of fallopian tube - 1st day: 2-cell stage - 2nd day: 4-cell stage - 72 hrs after: 8-cell stage - Day 4: morula takes place - Day 5: blastocyst o Cells begin to undergo differentiation and morphogenesis. o Cells of the trophoblast mediate the implantation of the blastocyst into the uterine wall. o Implantation begins when the blastocyst comes in contact with the ENDOMETRIUM. This coincides during the time when the patient is waiting for menstruation to occur. Vaginal spotting may occur implantation bleeding. o Trophoblast is the source of placental circulation and responsible for implantation.

4 Saint Louis University School of Medicine Batch 2015

Review of Embryology and Genetics PQ1 Dr. Jandoc

Day 9: no mixture of blood

Day 10-11: formation of the extraembryonic mesoderm, presence of amniotic cavity and amniotic cells

IMPLANTATION - Takes place during the 2nd week of development - Trophoblast cells surrounding the blastocyst secrete digestive enzymes that break down the endometrial cells.

Syncytiotrophoblast: the trophoblast that grows into the endometrium Cytotrophoblast Bloody show Day 7: blastocyst implanted into the endometrium Day 8: syncytiotrophoblast starts to proliferate into the uterine tissue

5 Saint Louis University School of Medicine Batch 2015

Review of Embryology and Genetics PQ1 Dr. Jandoc

be filled with AMNIOTIC FLUID(9 days after implantation) Circulation has been established.

EMBRYONIC DISC - The band of cells that remains in the inner cell mass positioned between the yolk sac and amniotic cavity. - Give rise to the EMBRYO - Day 10-11 after fertilization GASTRULATION - Cells of the embryo undergo significant movements as they rearrange themselves. - Lead to the establishment of the basic tissue types and generation of organs o Ectoderm Epidermis of skin (including hair, nails and sweat glands) Entire nervous system Lens, cornea, eye muscles (internal) Epithelium of mouth, nose salivary glands, and anus Tooth enamel Epithelium of adrenal medulla and pineal gland - Mesoderm o Muscles, skeleton, blood, dermis of the skin, etc. - Endoderm o Epithelium and glands of digestive tract, epithelium of lower respiratory tract, etc HYPOBLAST - Delaminates from the inner cell mass o Cells migrate and divide to line the blastocoele. o The newly lined cavity is called the yolk sac. o Yolk sac becomes an extension of the developing gut of the embryo. EPIBLAST - The remaining cells of the inner cell mass - Blue: amniotic fluid - Another layer of cells delaminates from the epiblast o Occurs on the side of the epiblast that is opposite from the hypoblast forming a 2nd cavity that will come to

6 Saint Louis University School of Medicine Batch 2015

Review of Embryology and Genetics PQ1 Dr. Jandoc

DNA (deoxyribonucleic acid) - Contains hereditary information - DNA molecules are in double helix formation - Consists of sugar phosphate backbone with complementary base pairs - Controls protein synthesis in the cell, which involve the processes of TRANSCRIPTION(occurs in the nucleus) and TRANSLATION (occurs in the cytoplasm)

TRANSCRIPTION - Copying of the sequence of the coding region of a gene into a molecule of RNA - The double strand of DNA separates, and one strand acts as a template to produce a strand of mRNA (goes out into the nucleus into the cytoplasm) TRANSLATION - Information encoded in the base sequence of the mRNA molecule is translated into the amino acid sequence of a protein Parents Expected genotype proportion AA xAA AA 1 (100%) AA xAa AA, Aa (1:1 (each 50%) Aa x Aa AA, Aa, aa 1:2:1 (25%, 50%, 25%) AA x aa Aa 1 (100%) Aa x aa Aa, aa 1:1 (50% each) aa x aa aa 1 (100%) - Gene for blue eyes recessive trait GENETICS Numerical chromosomal abnormalities Offspring

7 Saint Louis University School of Medicine Batch 2015

Review of Embryology and Genetics PQ1 Dr. Jandoc

Polyploidy: addition of extra haploid sets of chromosomes to the normal diploid set of chromosomes Triploidy (46+23) Tetraploidy (46+46) o Aneuploidy: addition of one chromosome (trisomy) or loss of one chromosome (monosomy) Trisomy 13 (Pataus syndrome) Trisomy 18 (Edwards syndrome) Trisomy 21 (Downs syndrome) Klinefelters syndrome Turners syndrome Structural chromosomal abnormalities o Deletion: loss of chromatin from a chromosome Chromosome 4p deletion (Wolf-Hirschorn syndrome) Chromosome 5p deletion (Cri du chat syndrome) Ring chromosome 14 o

Inversions: reversal of the order of DNA between two breaks in a chromosome

Microdeletion: loss of chromatin from a chromosome that can only be detected by high resolution banding o Prader-Willi syndrome Angelmans syndrome DiGeorge syndrome Miller-Diecker syndrome Translocation: result from breakage and exchange of segments between chromosomes o Robertsonian translocation o Acute promyelocyticanemia o Chronic myeloid leukemia Fragile sites gaps or breaks in the chromosomes Isochromosomes: centromere divides transversely instead of horizontally such that one of the chromosome arms is duplicated and the other arm is lost

Breakage: break in chromosome due to sunlight/UV irradiation, ionizing radiation, DNA cross-linking agents or DNA damaging agents Xerodermapigmentosa Ataxia-telengiectasia Fanconisanemia Blooms syndrome Hereditary non-polyposis colorectal CA

Single-gene inherited diseases o Autosomal dominant inheritance: receive only 1 defective copy of the gene from either parent Huntington disease o Autosomal recessive inheritance:2 copies of the defective gene (one from each parent) Cystic fibrosis X-linked recessive inheritance:occur in males, heterozygous females are carriers

8 Saint Louis University School of Medicine Batch 2015

Review of Embryology and Genetics PQ1 Dr. Jandoc

Duchenne muscular dystrophy o Mitochondrial inheritance: mutations in the mitochondrial DNA o Leber hereditary optic neuropathy Multifactorial inherited diseases:involve many genes that have a small, equal and additive effect and an environmental component o Type I Diabetes

For the animated explanation of gene abnormality. Check this website. unta28.html

9 Saint Louis University School of Medicine Batch 2015