Basic Genetic Concepts & Terms PDF

Basic Genetic Concepts & Terms Promporn Piboon DVM, PhD. (AJ. Muii) The School of Veterinary Medicine The Faculty of Veterinary Medicine Chiang Mai University Principles of Veterinary Genetics 651120 Vol. 1  Course outline Basic geneti...

Basic Genetic Concepts & Terms Promporn Piboon DVM, PhD. (AJ. Muii) The School of Veterinary Medicine The Faculty of Veterinary Medicine Chiang Mai University Principles of Veterinary Genetics 651120 Vol. 1  Course outline Basic genetic concepts & terms Cell divisions: Mitosis & Meiosis Mendelian Genetics The Extension of Mendelian Genetics  Objectives To learn the components of cells and organelles involved to Genetics To learn and recall the terminology used for Genetics To learn and understand the structure and function of DNA and Chromosome  Basic genetic concepts & terms Genetics is the study of heredity, or how the characteristics of living organisms are transmitted from one generation to the next (via DNA.) Rosalind Franklin (1920-1958) Maurice Wilkins (1916-2004) ↑ James Watson (1928-now) and Francis Crick (1916-2004) DNA is formed by the helix fashioned in 1951 Discovered 3D structure of DNA in 1953  Basic genetic concepts & terms The Central Dogma (by Francis Crick) ↳ Genetic information in form of Genes on DNA /Gene-DNA) Gene expression – the fundamental to life DNA > RNA - Transcription RNA > Protein - Translation Building proteins from 20 amino acids Different protein structures in different organisms  Basic genetic concepts & terms Cell & Organelle Cell - The smallest unit of living organism Composition Water 70 % Chemical 30 % Size 0.2 μm Mycoplasma gallicepticum 110-120 μm Human/ Dog oocyte 15-18 cm Ostrich egg * Mycoplasma gallicepticum Two broad categories of cells Ex Bacteria Prokaryote – non membrane organelles Miners. Eukaryote – membrane organelles wineid Ex on. e nons  Basic genetic concepts & terms Cell & Organelle Prokaryote DNA Owlu cytoplasm Where is your DNA? : A.) Nucleoid regions X Eukaryote B.) Cytoplasm DNA Mowlie's cell C.) Mitochondrion ↑ D.) Nucleus mine X V  Basic genetic concepts & terms Cell & Organelle Organelles Size (depend on cell type) 20 nm – 20 μm or larger The largest:..Nucleus. The smallest:.Ribosome.. Specific function DNA storage Produce chemical energy Protein/Lipid production and destruction Structural support Etc.  Basic genetic concepts & terms Ribosome Nucleus Contain genetic materials (DNA) Neclear a envelope - Phospholipid bilayer & with Nuclear pores ddd Nuclear lamina – lamin filament protein Gewem Ribosome Nucleolus – Dark region within the e nucleus contains gene for rRNA  Basic genetic concepts & terms Nucleus One cell: one nucleus, except >> binucleated 1 : nucleus Cardiac & Skeleton muscle cell Hepatocyte = cell mu Osteoclast wonderin · arto invigorate What’s eles?  Basic genetic concepts & terms Nucleus 2 main forms of genetic materials Chromosomes - Condensed state IJwln's > - Chromatin – Decondensed state -insumer The component of chromatin Histone (protein) DNA  Basic genetic concepts & terms 2 I 2 chromosome Chromosome & Chromatin ↓ d 4 142 3 Question : What stage of cell cycle the homologous chromosome and sister chromatids will be presented?  Basic genetic concepts & terms From DNA to Chromosome  Basic genetic concepts & terms Chromosome Uzbekov, R., & Prigent, C. (2022) Chromo = “color” Some = “body” Packed form of DNA /Genes Sister insinua ide chroma Duplicated and Unduplicated form Discovered “Thread-like structures ” i.e., Metaphase vs Anaphase/ Telophase in 1879 Wilhelm Waldeyer Named “Chromosome” in 1888  Basic genetic concepts & terms Chromosome Diploid Chromosome 1) Common Name Genus and Species Number (2n) Different form Interphase – Chromatin Buffalo Bison bison 60 Prophase & Metaphase - Chromosome Cat Felis catus 38 Whale Balaenoptera edeni 44 Different numbers among the oganisms Dog Canis familiaris 78 Diploid (2n) – most of organisms Donkey E. asinus 62 Haploid (n) - gamete Goat Capra hircus 60 Horse Equus caballus 64 Human Homo sapiens 46 Pig Sus scrofa 38 Elephant Elephas maximus 56  Basic genetic concepts & terms Structure of Chromosome Centromere nowns P Region held 2 sister chromatids Kinetochore: protein complex spindle fiber attatch site 9 Short arm: p Long arm: q Telomere newsies r DNA Short DNA sequence repeated 300-8,000 repeats of the sequence 5’-TTAGGG-3’ Protect both end of chromosome  Basic genetic concepts & terms Structure of Chromosome Cohesin and Shugoshin ↑ venmowikis cell T 1802 sister chromatids ↓ tilunanon  Basic genetic concepts & terms Structure of Chromosome 4 shaped of chromosome (ratio= q/p) EX. Ratio 9 Y10 14 dolierie Metacentric (1-1.7) 2 - 10 · 1. 7 V : - anwieun P Submetacentric (1.7-3.0) sir Acrocentric (> 7) Telocentric (∞ only one arm)  Basic genetic concepts & terms Structure of Chromosome Traditional Karyotypes Ta Boson vir-on voier Triniwirnvondria abnormal  Basic genetic concepts & terms Structure of Chromosome SKY - Spectral Karyotypes Entress Chromatins - Decondensed state Chromosomes - Condensed state  Basic genetic concepts & terms Structure of Chromosome Heterochromatin: Dense staining Less gene histone DNA Silent transcription UWI15W Limited gene expression Telomere and Centromere Euchromatin: Staining poorly histone DNA Gene rich Priso : Easy transcription More gene expression  Basic genetic concepts & terms Structure of Chromosome un ↓  Basic genetic concepts & terms Chromatin nucleosome Unpacked form (Nucleosome: Histone + DNA) I S 10-11 nm - Beads on a string Packed form 30 nm – nucleosomes packed 700 nm – chromatin fiber loops (Chromatid/ Chromosome)  Basic genetic concepts & terms Nucleosome 000 Histone & DNA (Beads on the string) histone The fundamental subunit of chromatin " DNA wind 1.65 times around core histone ~ 147 bp Linker DNA ~20-60 bp Marian 8 Core histone (Octamer) - H2A, H2B, H3, H4 Histone tail - Amino terminal extension Eine a # - Linker histone: H1 forming 30 nm fiber DNA Vr - Positively charged protein Histone s : 0 Ur : + Lysine & Arginine (20-32%) Question: Why do we need Histone ?  Basic genetic concepts & terms Nucleosome  Basic genetic concepts & terms (+) enccomilas/e Histone modification Play important roles in chromatin structure and function Reducing / Increasing the positive charge of histone * Acetylation (Increase gene expression) Lysine – H4 tail (position 8&16) loosen wrapping > expressed genes * Methylation (both increase/decrease gene expression) Lysine – H3 tail Position 4, 36, 79 > loosen wrapping > expressed genes Position 9 & 27 > increase wrapping > transcriptional repression Arginine – H3 tail Position 2 > loosen wrapping > expressed genes Phosphorylation Etc.  Basic genetic concepts & terms (ano) Ribosome Ribosome Rough I Membrane-bound ribosome on RER  Basic genetic concepts & terms Ribosome Direct synthesis of proteins Translate nucleic acid codes into amino acid codes - Made of rRNA (65%) and ribosomal proteins (35%) Composed of two subunits Large: Peptidyl transferase center Small: Decoding center Free ribosome in cytoplasm Membrane-bound ribosome on RER  Basic genetic concepts & terms Ribosome: Sedimentation velocity - Svedberg Coefficient Unit  Basic genetic concepts & terms Ribosome  Basic genetic concepts & terms Mitochondria Membrane organelle: Phospholipid bilayer ATP producing organelle 1 cell: 1,000 – 2,000 mitochondria Specific ribosome (55s-80s) Mitochondrial DNA (mtDNA) Zunoneiswiksi unitridenti DNA 2. Extranuclear maternal inheritance packed into mtDNA-nucleoid protein complex 5 - 10 copies of DNA / organelle  Basic genetic concepts & terms Mitochondria Kilobase mtDNA Length: ~ 16.5 kb (mammalian) Doble Helix Strand and Circular molecule Heavy strand miwor a Light strand 13 proteins, 2 ribosomal RNAs, and 22 tRNAs mtDNA, some parts are triple strand (D-loop)  Basic genetic concepts & terms Mitochondria volder mtDNA nituita mutation to mtDNA vulnerable for mutation Lack of histone protein High mutagenic reactive oxygen species (ROS)  Basic genetic concepts & terms Mitochondria swa : Moecies "ploop" ↑  Basic genetic concepts & terms Other organelles Endoplasmic Reticulum Golgi body Centriole I Lysosome worce  Basic genetic concepts and terms Terminology Chromosomes Genotype Chromatid Phenotype Chromatin Dominant Autosome/ Sex chromosome Recessive Locus/Loci Homozygous Genome Heterozygous Gene Hemizygous Allele Nullizygous  Basic genetic concepts and terms Terminology Autosome vs Sex chromosome (Genetic Sex Determination: GSD)  Basic genetic concepts and terms Terminology Environmental Sex Determination (ESD)  Basic genetic concepts and terms Terminology Temperature-dependent Sex Determination (TSD) All crocodile species Loggerhead sea turtle (Caretta caretta) Green sea turtle (Chelonia mydas) Leatherback sea turtle (Dermochelys coriacea) Red-footed tortoise (Chelonoidis carbonaria) Indian star tortoise (Geochelone elegans) GSD (but can be overridden by temperature) Bearded dragon (Pogona vitticeps) Leopard gecko (Eublepharis macularius)  Basic genetic concepts & terms Terminology Genome Entire sequence of nucleotide or DNA (Haploid)  Basic genetic concepts & terms Terminology Phenotype Genotype Gene Allele  Basic genetic concepts & terms Phenotype & Genotype : Three main coat colors of Labradors & Two specific genes Eumelanin color (Skin dilution) Ch 11 TYRP1-Tyrosinase related protein 1 : B, b B (Black skin) : AAACGTCCACCGTACGCAGTG b (brown skin) : AACCGTCCACCGTACGCAGTG Eumelanin distribution (Fur) Ch 5 MC1R-Melanocortin 1 receptor : E, e E (Eumelanin) : GGTCTATATTATCAACAGGAT e (no eumelanin) : GGTCTATATTACCAACAGGAT Brown Black Black bbE_ __ee B_E_ Choco Yellow Black Phenotype: Skin and Coat colors Genotype: Alleles (sequences)  Basic genetic concepts & terms Phenotype & Genotype Phenotype: Black skin/ Yellow fur Phenotype: Genotype: Genotype: Bbee or BBee bbee  Basic genetic concepts and terms Terminology Hemizygous – Gene with only one allele/chromosome X & Y chromosome in male mtDNA – mathernal inherited Mutant one allele Nullizygous or Homozygous null Mutant gene of two allele Completely loss of gene/function  Question ? Group work (10 % points) แผนพับขอมูลสัตว (สอดแทรกขอมูลทางพันธุกรรม) แตละกลุมจะไดทํากลุมสัตวที่แตกตางกันไป กลุม กวาง, กลุมวาฬ และโลมา, กลุมลิง, กลุมแมว, กลุมสุนัข, กลุมเตาทะเล, กลุมกิ้งกา (Gecko and lizard), กลุมหมี, กลุมนก, กลุมงู, กลุมเตาบก 10 persons / group PDF Deadline > 9 October 2024 ผลงาน นศ. จะไดรับคัดเลือกเพื่อจัดแสดงใน Museum