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61 Cards in this Set
- Front
- Back
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genomics
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branch of genetics that studies organisms in terms of their full DNA sequences, systematic study of complete DNA sequences (genome) or organisms, study of all nucleotide sequences (structural genes, regulatory sequences, non-coding DNA segments) in the chromosomes of an organism, application of biotechnology and DNA related to the previous
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In each human cell…
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46 chromosomes, 2m of DNA, 3 billion DNA subunits (ATCG), 30k genes that code for proteins to perform all functions of life
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How is DNA organized?
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A cell contains a nucleus, which contains chromosomes that consist of DNA that is segmented into genes that encode RNA that encodes proteins
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what are the bases of DNA?
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ATCG
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inherited canine blood disorders
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hemophilia (sex linked GSD) & von Willebrand's disease (various)
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inherited canine cardiovascular disorders
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cardiomyopathy (doberman, boxer, scottish deerhound)
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inherited canine endocrine disorders
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hyperthyroidism (afghan, cocker, etc)
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inherited canine eye disorders
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cataracts (various), glaucoma (boston terrier, basset, etc)
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inherited canine gastrointestinal disorders
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copper toxicosis (bedlington 50%), pancreatitis (min schnauzer)
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inherited canine immune disorders
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atopy (shar pei, lab retriever, etc), SCID (basset)
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inherited canine musculoskeletal disorder
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hereditary myopathy (lab retriever), myotonia (chow)
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inherited canine nervous system disorder
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cerebella ataxia (am staff, gordon setter), spina bifida (english bulldogs)
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inherited canine respiratory disorder
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hyperplastic trachea (brachycephalic breeds), laryngeal paralysis (sib husky)
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inherited canine skin disorder
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dermoid sinus (rhod ridge back, shih tzu), epidermal dysplasia (westie)
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inherited canine reproductive disorders
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cryptoorchidism (toy poodle, cairn terrier, maltese)
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what are the AKC breed groups?
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sporting, hounds, working, terriers, toy, non-sporting, herding
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how are AKC breed groups determined?
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historical development, morphology, behavior
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In the AKC, the top 20 breeds account for what percentage of registrations?
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74%
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In the AKC, the 86 rarest breeds account for what percentage of registrations?
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5%
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According to the AKC, what are the most and least popular breeds?
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Labrador Retriever and english fox hound
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In an accurate pedigree, how many times is an individual represented?
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only once
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Why do dogs have so many genetic disorders?
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chromosomes from father may also be from mother, which limits genetic info quickly (potentially turning heterogenous populations into homogenous populations)
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What makes dogs an interesting model for genetic disorders?
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plagued by greatest number of documented, naturally occuring genetic disorders of any non-human species, estimates of up to 25% of dogs in the US may have or carry a serious genetic disease (in humans 1% is considered high risk)
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what has occurred that makes canine genetics research a hot topic?
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since 1989 thirty hereditary illnesses have been traced to disease-causing genes in dogs, with majority identified since 1996, with 10-15 diseases mapped each year.
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Why are dogs good models for cancer?
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Genome and environmental exposure is similar to humans & the presentation, histology, and biology of some spontaneous cancers closely parallel human malignancies, & several serve as models for human disease
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What types of cancers are observed in dogs?
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lymphoma, osteosarcoma, soft tissue tumors, hemangiosarcoma, histiocytic sarcoma/malignant histiocytosis
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what are the top ten canine diseases?
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cancer, epilepsy, hip dysplasia, thyroid disease, allergies, bloat, heart disease, autoimmune disease, prog. Retinal atrophy, cataracts
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what human cancers are modeled in dogs?
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osteosarcoma, non-Hodgkin's lymphoma, glial tumors, oral melanoma, mammary carcinoma, prostate cancer
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what challenges do dog's chromosomes present?
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78 chromosomes, all are acrocentric, and are difficult to distinguish/ID
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what are the challenges in tumor cytogenetics?
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how to determine nature of tumor associated chromosome aberrations? & how to determine which chromosomes aberrations are associated with cause and which with effect?
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What two aberrations point to cancer?
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rearrangement of chromosomes isn't random and provides new neighbors that may result in cancer
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what is F.I.S.H?
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Fluorescence in Situ Hybridization. DNA clones (plasmid, phage, cosmid, BAC) are labeled with fluorochrome conjugated dTNP's (direct labeling) and used to 'report' their cytogenetic location and then combinational labeling and narrow pass filters allows many colors to be visualized simultaneously (2^n-1): 3 fluors = 7 colors, 4 fluors = 14 colors, 5 fluors = 31 colors
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How are whole chromosome paint probes from FISH used?
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chromosome material generated by bivariate flow sorting (>500) or LCM (1-10) & DOP-PCR amplified, labeled with one or more flurochromes
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How is direct analysis I of whole chromosome paint probes from FISH used?
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good for metaphase analysis, translocations, changes in copy number and not good for interphase analysis, intrachromosomal changes (inversions)
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what is Cluster Analysis of genome-wide DNA copy number changes in a series of canine cancer patients?
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a comparison of flurochrome labeled DNA to look for recurrent aberrations that correlate with diagnosis or prognosis and any corresponding cytogenetic lesions in human patients.
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Name an example of a chromosome examined in dogs that has impacted human health?
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CML - Philadelphia chromosome was discovered in 1960 and wsa the 1st consistent chromosome abnormaltiy found in any neoplasm which led to the development of imatinib mesylate (Gleevec) a major advancement in cancer treatment which originates with an abnormal human chromosome 22 due to a translocation with human chromosome 9 which generates a BCR-ABL fusion gene (associated with a poor prognosis) that is a diagnostic for chronic myeloid leukemia (CML) which is the most common cytogenetic aberration in adult acute lymphoblastic leukemia (ALL) at 25-30% and occurs in 5% of childhoood ALL, in dogs known as Raleigh chromosome
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what is a new genomic trend in animals?
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genetic tests for diseases in almost 50 breeds of dog
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has a dog been cloned?
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five little "boogers" but not examined by outside facility
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what genetic tests are available in horses?
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sex chromosome abnormalities, hyperkalemic periodic paralysis (HYPP), hereditary equine regional dermal asthenia (HERDA), Lethal White Overo (LWO) syndrome, several coat color mutations, parentage verification
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who was the stallion responsible for a propogating a major genetic illness in quarter horses and how did this occur?
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Impressive, who had outstanding conformation, and as a breeding stallion was successful in producing champions, leading to his siring over 55k quarterhorses, paints and apaloosa's world wide
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what genetic illness did Impressive have?
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Hyperkalemic Periodic Paralysis (HYPP)
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What is HYPP?
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Hyperkalemic Periodic Paralysis, an autosomal dominant mutation that is fully penetrant in the gene coding for a protein called voltage-gated sodium channel which is a tiny gateway in the membrane of muscles cells that governs sodium channels in these cells
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Could HYPP be eliminated?
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since any horse carrying an allele for HYPP will have HYPP, breeding only horses that do not have HYPP could eliminate the disease, and a PCR test that detects the point mutation in the sodium channel gene defined as domain IV segment S3 has been available since 1992
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What is HERDA?
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Hereditary Equine Regional Dermal Asthenia, which was previously referred to as Hyperelastosis Cutis (HC), which is an autosomal recessive that results in dysfunctional collagen bundles within the dermis that results in lack of adhesion within the dermis and results in loss of strength and durability of the skin in Quarter Horses and Arabian Crosses, and the defect causes the layers of skin to separate during trauma with lesions that don't heal well and in severe cases the skin splits along the back and begins to peel and roll down the sides resulting in an average lifespan of <4yrs
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Could HERDA be eliminated?
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Since heterozygous carriers are not affected, it may be hard to identify which horses carry the allele, thus eliminating carriers from the breeding pool would be challenging
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Have horses been clones?
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Prometea is the first cloned horse (prometus brought fire to mankind and was chained to a rock to have his liver pecked out daily, only to regenerate overnight), she has since had a foal named Pegaso
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What causes infertility in mares?
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>65% have a chromosome abnormality (~85% of thoroughbreds that haven't freshened in 2 seasons of breeding) resulting in X0 (infertile) or XXX (subfertile), aneuploidy is very common
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what is freemartinism?
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a severe form of sexual abnormality among cattle (and in bison, goats and sheep) which results in XY/XX chimeras that affects ~85% of mixed sex twins resulting in >90% infertility in female co twin (less severe in male partly since it is intended as beef cattle anyways), does occur at times in single born heifers, but approximatly 15% will be fine, and is caused by male hormones in females system triggering infertility
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how can we determine if twins will include a free martin?
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chromosomal analysis and PCR (look for XY cells in female's lymphocytes)
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have pigs been cloned?
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Yes, here at NCSU!
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What are some uses for wildlife genomics?
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parentage verification is captive populations, population analysis & assessment of genetic variability (determine conservation priority, effects of habitat change, genetic fitness), and evaluation of diseases
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what are some examples of the utilization of wildlife genomics?
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fertility in zebras, wildlife diseases in relation to global warming, inappropriate use of resources, reintroduction of mongolian horses that were infertile or created infertility due to hybridization.
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what is tdft?
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tasmanian devil facial tumor. The tumor cells are identical in all tazzies, the tumor grows rapidly, and is passed by bites and sexual contact via allograft transmission, but doesn't actually kill the tazzie but causes them to starve to death
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how is tdft related to dogs?
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it is similar to canine transmittable veneral tumors that arose in England and is an infectious cancer
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Why is the NIH interested in animal genomics?
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it can help to fill in holes in the human genome and provide models of similar problems in human health
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how is genomics being used in wild elephant populations?
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using vasectomies that provide a population control in elephants that enables conservation efforts and maintains biodiversity that reduces the need for culling (a diversity blind activity) and aids in management while being permenant contraception without altering hormones or behavior
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how is genomics being used in sea lions?
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to examine a urogenital carcinoma that is sexually transmitted and that affects at least 17% of the population by creating tumors on female cervixes and male penises and disseminates through body
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how is the study of urogenital carcinomas in sea lions important to pet populations?
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sea lions are the 'dogs of the sea' and the disease is similar to canine transmisttable venerable tumors
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what technologies are used to detect what in the study of genomics?
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DNA sequencing (mutation detection), PCR (parentage, mutation screening, sex determination), SNP analysis (halotype analysis, mutation screening), FISH (molecular cytogenic assessment of numerical and structural chromosome abberations in cancer and syndromes and for diagnosis of such), Microarray (genomic, gene expression, SNP), and LCM (isolation of pure cell populations)
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what does the future of genomics hold for veterinary medicine?
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genomics will lead to the determination of underlying genes resulting in disease, which will lead to gene discovery for both animals and humans and create new targets for therapy, and result in genetic tests that pet owners will request and vets will need to guide those decision processes of testing and evaluating results
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what will drive the present and future genetic improvements for the economically important traits in animals, discovery of genetic mutations, and development of diagnostic test?
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increased accesibility to more detailed genetic maps and our growing understanding of the function and structure of individual genes
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