#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Precision medicine in cats—The right biomedical model may not be the mouse!


Autoři: Leslie A. Lyons aff001
Působiště autorů: Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, Missouri, United States of America aff001
Vyšlo v časopise: Precision medicine in cats—The right biomedical model may not be the mouse!. PLoS Genet 16(12): e1009177. doi:10.1371/journal.pgen.1009177
Kategorie: Perspective
doi: https://doi.org/10.1371/journal.pgen.1009177


Zdroje

1. Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, et al. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Am J Hum Genet. 2019;105(4):719–733. doi: 10.1016/j.ajhg.2019.08.009 31564432

2. Ranganathan Ganakammal S, Alexov E. An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants. Genes (Basel). 2020;11(9):E1102. doi: 10.3390/genes11091102 32967157.

3. Jacinto FV, Link W, Ferreira BI. CRISPR/Cas9-mediated genome editing: From basic research to translational medicine. J Cell Mol Med. 2020;24(7):3766–3778. doi: 10.1111/jcmm.14916 Epub 2020 Feb 25. 32096600; PMCID: PMC7171402.

4. Lee K, Farrell K, Uh K. Application of genome-editing systems to enhance available pig resources for agriculture and biomedicine. Reprod Fertil Dev. 2019;32(2):40–49. doi: 10.1071/RD19273 32188556.

5. Ma N, Zhang JZ, Itzhaki I, Zhang SL, Chen H, Haddad F, et al. Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells. Circulation. 138;23(2018):2666–2681. doi: 10.1161/CIRCULATIONAHA.117.032273 29914921

6. Hendriks WT, Warren CR, Cowan CA. Genome editing in human pluripotent stem cells: approaches, pitfalls, and solutions. Cell Stem Cell. 2016;18:53–65. doi: 10.1016/j.stem.2015.12.002 26748756

7. Graff EC, Cochran JN, Kaelin CB, Day K, Gray-Edwards HL, Watanabe R, et al. PEA15 loss of function and defective cerebral development in the domestic cat. PLoS Genet. 2020.

8. Renault F, Formstecher E, Callebaut I, Junier M-P, Chneiweiss H. The multifunctional protein PEA-15 is involved in the control of apoptosis and cell cycle in astrocytes. Biochem Pharmacol. 2003;66(8):1581–8. Epub 2003 Oct 14. doi: 10.1016/s0006-2952(03)00514-8 14555237.

9. Kitsberg D, Formstecher E, Fauquet M, Kubes M, Cordier J, Canton B, et al. Knock-out of the neural death effector domain protein PEA-15 demonstrates that its expression protects astrocytes from TNF-alpha-induced apoptosis. J Neurosci. 1999;19:8244–8251. 10493725

10. Online Mendelian Inheritance in Animals, OMIA. Sydney School of Veterinary Science. [cited 2020 Sep 4]. Available from: https://www.omia.org/.

11. Cogné B, Latypova X, Dona L, Senaratne S, Martin L, Koboldt DC, et al. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. Am J Hum Genet. 2020;106(6):893–904. doi: 10.1016/j.ajhg.2020.04.005 Epub 2020 May 7. 32386558; PMCID: PMC7273529.

12. Buckley RM, Davis BW, Brashear WA, FHG F, Kuroki K, Graves T, et al. A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism. PLoS Genet. 2020;16(10):e1008926. doi: 10.1371/journal.pgen.1008926 33090996

13. Yu Y, Creighton EK, Buckley RM, Lyons LA, 99 Lives Consortium. A Deletion in GDF7 is Associated with a Heritable Forebrain Commissural Malformation Concurrent with Ventriculomegaly and Interhemispheric Cysts in Cats. Genes. 2020;11(6):672. doi: 10.3390/genes11060672 32575532; PubMed Central PMCID: PMC7349246.

14. Guevar J, Hug P, Giebels F, Durand A, Jagannathan V, Leeb T. A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis. J Vet Intern Med. 2020;34(1):289–293. doi: 10.1111/jvim.15663 Epub 2019 Dec 20. 31860737; PMCID: PMC6979099.

15. Katz ML, Buckley RM, Biegen V, O’Brien DP, Johnson GC, Warren WC, et al. Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6. G3 (Bethesda). 2020;10(8):2741–2751. doi: 10.1534/g3.120.401407 32518081; PubMed Central PMCID: PMC7407459.

16. David VA, David VA, Menotti-Raymond M, Wallace AC, Roelke M, Kehler J, et al. Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. G3 (Bethesda). 2014;4(10):1881–1891. doi: 10.1534/g3.114.013425 25085922; PubMed Central PMCID: PMC4199695.

17. Frischknecht M, Jagannathan V, Leeb T. Whole genome sequencing confirms KIT insertions in a white cat. Anim Genet. 2015;46(1):98. doi: 10.1111/age.12246 Epub 2014 Dec 16. 25515300.

18. Buckley RM, Grahn RA, Gandolfi B, Herrick JR, Kittleson MD, Bateman HL, et al. Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST. Sci Rep. 2020;10:64. doi: 10.1038/s41598-019-56896-9 31919397; PubMed Central PMCID: PMC6952417.

19. Gurda BL, Vite CH. Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases. Hum Mol Genet. 2019;28(R1):R119–R131. doi: 10.1093/hmg/ddz127 31384936.

20. Buckley RM, Lyons LA. Precision/Genomic Medicine for Domestic Cats. Vet Clin North Am Small Anim Pract. 2020;50(5):983–990. doi: 10.1016/j.cvsm.2020.05.005 Epub 2020 Jul 8. 32653264.

21. Montague MJ, Li G, Gandolfi B, Khan R, Aken BL, Searle SMJ, et al. Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication. Proc Natl Acad Sci U S A. 2014;111(48):17230–5. doi: 10.1073/pnas.1410083111 Epub 2014 Nov 10. 25385592; PMCID: PMC4260561.


Článek vyšel v časopise

PLOS Genetics


2020 Číslo 12
Nejčtenější tento týden
Nejčtenější v tomto čísle
Kurzy

Zvyšte si kvalifikaci online z pohodlí domova

Hypertenze a hypercholesterolémie – synergický efekt léčby
nový kurz
Autoři: prof. MUDr. Hana Rosolová, DrSc.

Multidisciplinární zkušenosti u pacientů s diabetem
Autoři: Prof. MUDr. Martin Haluzík, DrSc., prof. MUDr. Vojtěch Melenovský, CSc., prof. MUDr. Vladimír Tesař, DrSc.

Úloha kombinovaných preparátů v léčbě arteriální hypertenze
Autoři: prof. MUDr. Martin Haluzík, DrSc.

Halitóza
Autoři: MUDr. Ladislav Korábek, CSc., MBA

Terapie roztroušené sklerózy v kostce
Autoři: MUDr. Dominika Šťastná, Ph.D.

Všechny kurzy
Přihlášení
Zapomenuté heslo

Zadejte e-mailovou adresu, se kterou jste vytvářel(a) účet, budou Vám na ni zaslány informace k nastavení nového hesla.

Přihlášení

Nemáte účet?  Registrujte se

#ADS_BOTTOM_SCRIPTS#