Genetica

Curs introductiv

Maria-Mihaela ANTOFIE

Genetica

Stiinta ereditatii vietuitoarelor.

ereditatea este reprezentata de procesul transmiterii caracterelor ereditare de la parinti la copii.

gennao gr. hereditas lat.

Stiinta de tip meditativ cu preponderenta pana in sec. XIX Stiinta de tip experimental cu preponderenta dupa 1905

Zorii geneticii ca stiinta experimentala

Gregor Mendel

(1822-1884)

Parintele geneticii
realizeaza experimente pentru ameliorarea plantelor in gradina manastirii augustine din Brno In 1865 publica prima lucrare stiintifica cu privire la unitatile ereditatii Experiente asupra hibrizilor la plante.

Gregor Mendel...

Descopera
factorii ereditari (numiti ulterior gene de catre WL Johannsen in 1909) modelele de transmitere a caracterelor ereditare modele ale ereditatii faptul ca genele provin de la ambii parinti spulberand dogma antica de la Anaxagora conform careia doar partea masculina aduce factorii ereditari conceptul de gene alele, caracter dominant si caracter recesiv

Gregor Mendel...

Concluziile Mendeliene

hibrizii din prima generatie dupa incrucisare sunt uniformi gametii sunt intotdeauna puri perechile de factori ereditari segrega independent

1900

lucrarile lui Mendel sunt redescoperite simultan de catre

Hugo de Vries Olanda Carl Correns Germania Erick von Tschermak Austria

este considerat anul de nastere neoficial al geneticii ca stiinta

W Bateson
1905

genetica apare in mod oficial, in randul stiintelor vietii la initiativa geneticianului englez din cursul celei de a 3-a Conferinte Internationale de hibridare si ameliorare a plantelor de la Londra 1909 infiinteaza prima catedra de genetica din lume la Universitatea Cambridge din Anglia

Secolul XX
1901 - teoria mutatiilor Hugo de Vries 1910 teoria cromozomiala a ereditatii T.H. Morgan 1927 teoria mutatiei artificiale a genelor - radiogenetica J. H. Muller 1944 genetica moleculara O.T Avery si colab 1953- descoperirea ADN de catre

Structura ADN nivele de orgnizare

baze purinice A, G baze pirimidinice T, C dezoxiriboza

Nucleoside
PO4(3-)

Nucleotide Nucleosom Solenoid Suprasolenoid Cromozom

Baze azotate

Baze pirimidinice

Uracil (Ascoli, 1900 din ARN drojdii) Timina (izolata prima data din timus) Citozina (Kossel, 1894) ac orotic precursor in biosinteza bazelor pirimidinice

Bazele purinice

Adenina (Kossel 1885, din pancreas si apoi din drojdie) Guanina (Magnus, 1844 din guano si apoi Kossel, 1883, din acizii nucleici)

Baze azotate...

Ce anume ne face unici?

Acidul deoxiribonucleic (ADN) Fiecare din cele 100 trilioane de celule ale unui corp omenesc (1014) cu exceptia hematiilor contin intreg genomul uman, in interiorul fiecarui nucleu reasindu-se informatia completa construirii individului Functiile ADN

detine codul genetic pentru intreg organismul. furnizeaza informatia necesara sintezei proteice.

Lungimea ADN

E. coli 4.64 megabaze (Mb), 1.5776 mm lungime Drojdia de bere 15 Mb omul 3000 Mb, 1020 mm, sau 1.02m
Genomul are o lungime uriasa in raport cu celula. Astfel, lungimea genomului E. coli este de 1000 ori mai mare decat lungimea bacteriei insasi.

Bazele azotate ale ADN

Adenina= A Timina= T Guanina= G Citozina= C A realizeaza duble legaturi de H cu T C realizeaza triple legaturi de H cu G

Bazele azotate ale ARN

Adenina= A Uracil= U Guanina= G Citozina= C G always pairs with C T din ADN realizeaza duble legaturi de H cu A din ARN A din ADN realizeaza triple legaturi de H cu U din ARN

Modelul ADN

Modelul ADNl

Chromosomes
The DNA in every cell is located in rod like segments called chromosomes Chromosomes occurs in pairs in every cell of our body except in the sperm and ovum. Chromosomes numbers are the same for each specie.

E. Pennisi (Nature 2007)

Chromosome Numbers
Species Bovine Porcine Oaie Cal Om Pui Capra Magar Diploid # 60 38 54 64 46 78 60 62 Haploid # 30 19 27 32 23 39 30 31

Chromosomes
There are 2 sex chromosomes included in the diploid number of the chromosomes. All of the other chromosomes are referred to as autosomes. In mammals if the sex chromosomes are alike, XX it results in a female. If the sex chromosomes are different, XY it results in a male.

Sex Determination

Females contribute an X chromosome towards the sex of their offspring. Males can contribute an X or a Y chromosome toward the sex of their offspring. Absence of an Y chromosome results in a the embryo developing into a female. Presence of an Y chromosome results in the embryo developing into a male.

Sex Determination

Gametogenesis = Formation of gametes through meiosis. Male = 4 viable spermatids Female = 1 viable ovum, 3 polar bodies.

Tell me what I am ?????

Tell me what I am ?????

Cell Division

Meiosis

Is the form of cell division which results reducing the chromosome number from the diploid # to the haploid #. Occurs only in the sex cells, sperm and ovum. Is the form of cell division which results in the formation of identical daughter cells, keeps the chromosome number constant. Tissue growth and repair. Occurs throughout the body except in the sex cells.

Mitosis

Genotype or Gamete

Genotype contains two copies of the gene.

AaBB

Gamete (sex cells) contains only one copy of the gene.

AB

Determine the possible gametes of AaBB

AB

aB

Gamete or Genotype
State if its a gamete or genotype. Aa D DdEeFFgg sRtxyq AaBBeeFF adgEFT

List all the possible gametes.

From the genotype AB Ab aB ab

AaBb

Genes
Cromozomiii contin unitatile ereditatii genele. adesea exista in pereche si isi au originea fiecare de la cate un parinte. unele exprima direct un caracter ereditar . altele doar in asociere cu alte gene exprima un caracter.

Genes
It was presumed that we were composed of about 100,000 genes to construct us. Today, research has proven that number is a lot less than 100,000. Extra credit for the student that can find an article about the current number of genes.

Terms to know

Homozygous- contains 2 identical genes for the same trait, AA, BB, cc Heterozygous- contains 2 different genes for the same trait, Aa, bB, Cc Phenotype- Outward appearance of a trait, coat color, polled, horned. Genotype- Genetic classification of a gene, AA, Aa, aa. Allele- Location of a gene on the chromosome. F-one = First cross mating. F-two = Second cross mating.

What are dominant genes?

The gene that express itself, the powerful and dominant gene. It has the power to overshadow the recessive gene when there is complete dominance. Some examples are:

White faced in cattle Droopy ears in swine Polled in cattle Black coat color in Angus cattle

What are Recessive Genes?

The gene that is overshadowed by a dominant gene Recessive genes can only express themselves in the absence of the dominant gene Polled vs Horned (Pp) (pp) Black wool vs white (Ww) (ww) Dwarfism vs normal size (dd) Albino

Punnet Square

Angus- Black coat color is dominant. BB = Homozygous Dominant and Black Bb = Heterozygous and is black bb = Homozygous recessive and red A heterozygous bull is mated to 50 homozygous recessive cows. How many calves are black? How many calves are red? What is the genotypic and phenotypic ratios?

Punnet Square

B b b Bb Bb

b bb bb

Results
2 heterozygous = Bb 2 Homozygous Recessive bb 25 Black, 25 Red Genotypic ratio = 0:2:2 Phenotypic ratio = 2 Black: 2 Red

What are Sex Linked Genes?

Some recessive genes are attached to the X and Y chromosomes Humans: Colorblindness and Baldness are on the X chromosomes In Men, traits expressed anytime present In Women, must have two recessives to show trait Children get baldness from mothers

If Dad is bald, will you be bald?

X B Y

XX

X Y

XX

XY

Baldness is carried by the mother

X Y

X B

XX B

XB Y

XX

XY

What if Mom is bald?

X Y

X B

XX B

XB Y

X B

XX B

XB Y

What is Incomplete Dominance?

If both genes express themselves Shorthorn Cattle: Red male mated to a White female = Roan calf RR crossed rr = Rr

Punnet Square
Shorthorn Cattle RR = Red rr = white Rr = roan If a red bull (RR) is mated to a white cow (rr), what color will the calves be?

Shorthorn: Red X White

R Rr r r Rr

R Rr Rr

Punnet Square

If a red bull (RR) is mated to a roan (Rr) cow, what color will the calves be?

Shorthorn: Red X Roan

R R r RR Rr

R RR Rr

What if Both Parents are Roan?

R R r RR Rr

r Rr rr

What is a Mutation?

Dramatically different from what is expected genetically Horned calf from polled parents Loss of some or extra body parts Lethal Mutation: causes death at birth Sublethal Mutation: limits animals ability to grow to maturity Beneficial Mutation: loss of tail in lambs

What is Heritability?
Chance that traits will be inherited Low: multiple births, fat covering Medium: birth wt, wean wt, milk, wool grade, carcass wt, rate of gain High: Loin eye area, fleece length & quality

Mating Systems

Upgrading: mating purebreds with grade animals Inbreeding: mating closely related animals Linebreeding: mating distantly related animals Outcrossing: mating unrelated animals in the same breed. Crossbreeding: mating animals of same species but different breeds.

What is Hybrid Vigor? Heterosis

Offspring will outperform either of the parents Corn Breed A yields 100 bu/acre Corn Breed B yields 100 bu/acre Crossbreed A & B yields corn that yields 200 bu/acre Vigor only expressed in crossbreeding

The End