GENERAL BIOLOGY 2

-HORMONES-
Homeostasis- the maintenance of a constant internal environment within physiological
tolerance limits - it is responsible for maintaining equilibrium. A disease will ensue when a
factor deviates from its normal homeostatic range.
Negative feedback
● physiological processes are moderated by feedback loops.
- changed condition are detected by a receptor
- A corrective response is initiated by an affector
● Homeostasis is maintained via negative feedback
- The effect is antagonist (opposite) to the stimulus
● Feedback loops are involved in a number of homeostatic processes :
thermoregulation, blood Ph, water balance
Positive feedback - occurs when a product feedbacks to increase its own production. This
causes conditions to become increasingly extreme.
Hormones- are chemical messengers released from ductless endocrine glands, It can be
either proteins or lipids.
Components of endocrine system include:
- Pineal gland: melatonin (biological clock)
- Pituitary gland : ADH (osmoregulation)
- Thyroid gland: thyroxin (metabolic rate)
- Adrenal gland: adrenaline (fight or flight response)
- Pancreas : insulin/glucagon (blood sugar level)
- Adipose tissue: Leptin (appetite control)
- Gonads : Testosterone / estrogen (sex characteristics)

Thyroxin - is secreted by the thyroid gland to regulate metabolic rate and help control body
temperature.
● Endocrine gland: Thyroid gland
● Function :
- It is activated by signals from hypothalamus.
- Primary role is to increase metabolic rate.
- This results in increased in heat production.

Melatonin - is secreted by the pineal gland to control circadian rhythm.

● Endocrine gland: Pineal gland (in the brain)
● function:
- Regulates circadian rhythms
- Secretion is suppressed by light stimuli that are relayed to the hypothalamus
- Hence, melatonin levels are higher at night
● Jetlags- physiological condition caused by a change to normal circadian rhythm

Leptin - secreted by cells in adipose tissue and act on the hypothalamus to inhibit appetite
● Endocrine gland: Adipose tissues( fat cells)
● Function:
- Binds to receptors in the hypothalamus
- Functions to suppress appetite
 - Over-eating increases leptin production while starvation reduces the leptin
levels
Ghrelin
● Endocrine gland: stomach
● Function:
- Also known as the “hunger hormone”
- It signals your brain when your stomach is empty and it’s time to eat. Ghrelin
levels increase between mealtimes and decrease when your stomach is full.

Leptin: obesity
● As leptin suppresses appetite, it has been considered as a treatment for obesity
- Theoretically, leptin would limit hunger and hence reduce the food intake
● Most obesity cases are due to leptin unresponsive and not leptin deficiency
- Likely due to down-regulation in the expression of the leptin receptor
● This means leptin treatment are not considered an effective obesity treatment
- Few patient in clinical trials experienced significant weight loss with leptin
- However, many patients did experience adverse reactions to leptin treatment.
Insulin & glucagon - are released by b and a cells of the pancreas to control blood glucose
levels
● Endocrine gland : pancreas
● Function :
- Insulin lower blood sugar levels
- Glucagon raises blood sugar levels
- Affected by eating and exercise
● Diabetes mellitus - is a metabolic disorder resulting from high blood glucose level

Soil and seed theory - by aristotle. A male seed is mixed with the menstrual blood. An
embryo is formed from the seed-blood mix.
All life must come from eggs - by william harvey. He unsuccessfully searched the uterus of
deer. But he did debunk the soil and seed theory.
Sexual reproduction- combines genetic information from both parental gametes
- The male gamete (sperm) and female gamete(ovum) unite during copulation
- Male and female need distinct reproductive system to form these gametes
Sex determination
- Humans have 23 pairs of chromosomes in all diploid cells.
● 22 pairs of autosomes and the sex chromosomes (x+y)
- The Y chromosome contains an SRY gene
● The gene codes TDF protein
- Production of TDF protein determines sex offspring:
● Male (XY) develop testes and secrete testosterone
● Females (XX) lack the SRY gene and develop ovaries
MALE REPRODUCTIVE ORGANS
- Testes - produces sperm and male sex hormones
- Epididymis- site where sperm matures and develops capacity to swim
- Vas deferens - carries sperm from the testes to urethra
- Seminal vesicle - secretes fructose and prostaglandins
- Prostate gland - secretes an alkali fluid to neutralise vaginal acids
- Urethra- carries sperm to the outside of the body
Female reproductive organs
- Ovary- the reproductive where eggs are produce
- Fimbriae - a fringe of tissue that sweeps an oocyte into the oviduct
- Oviduct - the tube where an ovum passes to the uterus
- Uterus - the organ where a fertilised egg will implant and develop
- Endometrium - a mucous membrane lining the uterus
- Vagina- passage leading to the uterus via which a penis can enter

Stages of the menstrual cycle

- Follicular phase - follicles develop under the influence of FSH and LH
- Ovulation - a follicle ruptures and releases oocyte into oviduct
- Luteal phase - ruptured follicle prepares the uterus for pregnancy
Genetics - a field of science that deals with the study of heredity and variation
Heredity - is the transmission of genes from parents to its offspring
Variation - are the differences among individuals in a species or differences among species
in population.
Allele- genes that are found in the same loci of homologous chromosomes or these are
different form of genes.
Homozygous- genes that are morphologically alike
Heterozygous - genes that are morphologically different
Genes- these are DNA molecules or information carried by each individual organism which
determines the visible trait of an organism
Dominant gene- gene or factor that mask another gene
Recessive genes - gene or factor that masked by the dominant gene.
Genotype- the genetic makeup or genetic composition for a particular trait
Phenotype- the appearance or characteristic of an organism or the trait that is expressed as
determined by the genotype.
Gregor Johann Mendel - Father of genetics. He presented in experiments the nature of
inheritance in 1866. He also used the garden pea as his main specimen for his genetic
experiments.

Mendel’s laws of genetics

1. Law of dominance - when an organism has two different alleles for a given trait, the
allele that is expressed, overshadowing the expression of the other allele, is said to
be dominant. The gene whose expression is overshadowed is said to be recessive.
2. Law of Segregation - each pair of alleles, segregates, or separates, during meiosis.
3. Law of independent assortment - members of one gene pair segregate
independently from other gene pairs during gamete formation.
- Gene gets shuffled- these many combinations are one of the advantages of
sexual reprofuction.
Monohybrid cross- it is a cross which considers only one trait at a time.
Dyhybrid cross- it is a cross considers the inheritance of two traits at a time.
Codominance - a pair of nonidentical alleles specify two phenotypes, both of which are
expressed at the same time in heterozygotes.
Incomplete dominance- one allele of a pair isn’t fully dominant over its partner, so a
heterozygous phenotype somewhere in between the two homozygous phenotypes emerges.
Multiple allele system - when three or more alleles of a gene are present among members
of a population.
Landsteiner (1900)- developed a system of determining the blood types of man
- Agglutination - antibodies circulating in plasma act against foreign cells that causes
the clumping of blood cells
- Agglutinogens- antigens present in the erythrocytes
- Agglutinins - antibodies found in the blood plasma
Rh blood typing - is based on the presence or absence of an Rh marker
Erythroblastosis fetalis - is a severe outcome of mixing Rh+ and Rh- types causes the red
blood cells to swell, rupture, and release hemoglobin. Mothers who are Rh- must be injected
by anti -Rh gamma globulin to protect her next fetus
Multiple effects of single genes
- Pleiotropy- one gene that has multiple effects on the phenotype. Expr4essi9on of
the allele at a single gene location on a chromosome may influence two or more
traits.
- Sickle-cell anemia- it rises from a mutated gene for hemoglobin. Hemoglobin is a
protein that transports oxygen in red blood cells.
Epistasis- occurs when one gene product affects the expression of another gene.
Chromosome - most species of animals and plants carry a pair of chromosomes that
determine the individual sex.
Sex-linked genes- phenotypes that affect one sex more than the other. That is the alles
controlling them are on the X or Y chromosomes.
Sex chromosomes- determine the sex of many species including humans.
Y chromosomes- plays the largest role in human sex determination. It carries fewer than
100 genes. Scientists therefore know a very few Y-linked disorders; most involve defects on
sperm production.
X chromosomes- carries more than 1000 protein-encoding genes, most of which have
nothing to do with sex determination.
Thomas Hunt Morgan - he was the first to unravel the unusual inheritance patterns
associated with gene on the X chromosome. The eye of fruit flies are usually red. To study
the inheritance of this odd phenotype, he created true-breeding lines of flies with each eye
color.
X-linked recessive disorder in humans
- Duchenne muscular dystrophy- Mutant allele for gene encoding dystrophin. Rapid
muscle degeneration early in life
- Fragile X syndrome - unstable region of X chromosome has usually high number of
CCG repeats. Most common form of inherited mental retardation
- Hemophilia A- mutant allele for gene encoding blood clotting protein (factor VIII).
Uncontrolled bleeding and easy bruising.
- Red-green color blindness- mutant alleles for genes encoding receptors for red or
green wavelengths of light. Reduce ability to distinguish red and green.
- Rett syndrome- mutant allele for gene required for development of nerve cells.
Severe developmental disorders. Almost all affected children are female; affected
male embryos cease development before birth.
Pedigree analysis- an orderly presentation of family information
Sex-linked dominant- mother pass their X’s to both sons and daughters. Father pass their
X to daughters only. Normal outsider rule for dominant pedigrees for females, but for sex-
linked traits remember that males are heterozygous and express whichever gene is on their
X.
Sex-linked recessive- Males get their X from their mother. Fathers pass their X to
daughters only. Females express it only if they get a copy from both parents. Expressed in
males present. Recessive in females. Outsider rule for recessive: normal outsider are
assumed to be homozygous.
X-linked dominant disorder in humans
- Extra hairiness - mechanism unknown. Many more follicles than normal
- Hypophophathemic rickets- mutant allele for gene involved in phosphorus
absorption. Low blood phosphorus level causes defective bones.
- Retinitis pigmentosa- mutant allele for cell-signaling protein; mechanism unknown.
Defects in retina causes partial blindness.
Autosomes- are the first 22 homologous pairs of human chromosomes that do not influence
the sex of an individual.
Sex chromosomes - are the 23rd pair of chromosomes that determine the sex of an
individual.
Autosomal dominant- assume affected outsiders are assumed to be heterozygotes. All
unaffected individuals are homozygous for the normal recessive allele.
Autosomal recessive- if dominant allele is present on the autosome, then the individual will
not express the trait. In order to express the trait, two recessive alleles must be present.
Aa(carrier)- they carry the recessive allele and can be pass it on to offspring, but they do
not express the trait.

Autosomal dominant disorder in human

- Achondroplasia - mutant allele of gene on chromosome 4 causes deficiency of
receptor protein for growth factor. Dwarfism with short limbs; head and trunk sizes
are normal.
- Familial hypercholesterolemia- mutant allele of gene on chromosome 2 encodes
faulty cholesterol-binding protein. High cholesterol, heart disease.
- Huntington disease- mutant allele of gene on chromosome 4 encodes protein with
extra amino acids that causes it to misfold and form clumps in brain cells.
Progressive uncontrollable movements and personality changes, beginning in middle
age.
- Marfan syndrome- mutant allele of gene on chromosome 15 causes connective
tissue disorder. Long limbs, sunken chest, lens discoloration, spindy fingers,
weakened aorta.
- Neurofibromatosis (type1)- mutant allele of gene on chromosome 17 encodes
faulty cell signaling protein. Brown skin marks, benign tumors beneath skin
- Polydactyly- multiple genes on multiple chromosomes; mechanism unknown. Extra
fingers or toes or both.

Autosomal recessive disorder in human

- Albinism - mutant allele of gene in chromosome 11 encodes faulty gene in
biochemical pathway required for pigment production. Lack of pigmentation in skin,
hair, and eyes.
 - Cystic fibrosis- mutant allele of gene on chromosome 7 encode faulty chloride
channel protein. Lung infections and congestions, infertility, poor fat digestion, poor
weight gain, salty sweat.
- Phenylketonuria (PKU)- mutant allele of gene chromosome 12 causes enzyme
deficiency in biochemical pathway that breaks down amino acid phenylalanine.
Buildup of phenylalanine and related compounds caused mental retardation.
- Tay-sachs disease- mutant allele of gene in chromosome 15 causes deficiency of
lysosome enzyme. Buildup of byproducts causes nervous system degeneration.
Camptodactyly- a rare, genetic abnormality that affects the shape and movement of fingers.
Mitochondrial inheritance- can affect both males and females, but only passes on by
females because all mitochondria of all children come from the mother; can appear in every
generation.

Problems with chromosome structure

1. Delation- during cell division, especially meiosis, a piece of the chromosome breaks
off, may be an end piece or a middle piece.
2. Inversion- a segment of the chromosome is turned 180degree,same gene but
opposite position
3. Translocation- movement of a chromosome segment from one chromosome to a
non-homologous chromosome
4. Duplication-a doubling of a chromosome segment because of attaching a broken
piece form a homologous chromosome or by unequal crossing over
5. Monosomy- only one of a particular TYPE OF CHROMOSOME (2N-1)
6. Trisomy- having three of a particular type of chromosome (2n+ 1)
7. Polyploidy-having more than two sets of chromosomes; triploid (3n = 3 of each type
of chromosome), tetraploids (4n = 4 of each type of chromosome).

Trisomy 13 or patau syndrome- has 3 copies of chromosome 13 instead of 2.

Trisomy 18 or Edward's syndrome- has 3 copies of chromosome 18 instead of 2.
Trisomy 21 or down syndrome- has 3 copies of chromosome 21
XO or turner syndrome- can cause a variety of medical and developmental problems,
including short height, failure of the ovaries to develop and heart defects.
XXY or Klinefelter’s syndrome- more than one extra copy of the x chromosome, which is
rare and results in a severe form.