Transgenic animals as models for human disease
Tóm tắt
Transgenic animals, especially mice, have been used quite extensively as models for various human diseases. At first, the level of scientific inquiry was driven by the need to establish the model. In many cases, these models may be considered quite crude because of their limitations. More recently, transgenic models of disease have become more refined and are currently being used to study the pathological mechanisms behind the disease rather than to just provide a model of the disease. Using some examples from the recent literature, we will document the current level and complexity of inquiry using transgenic animals. New techniques and techniques that may prove promising will be discussed.
Tài liệu tham khảo
Banin E, Cideciyan AV, Aleman TS, Petters RM, Wong F, Milam AH, et al. (1999) Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development. Neuron 23: 549–557.
Blouin MJ, Beauchemin H, Wright A, De Paepe M, Sorette M, Bleau AM, et al. (2000) Genetic correction of sickle cell disease: insights using transgenic mouse models. Nat Med 6(2): 177–182.
Bruijn LI and Cleveland DW (1996) Mechanisms of selective motor neuron death in ALS: insights from transgenic mouse models of motor neuron disease. Neuropath Appl Neurobiol 22: 373–387.
Cote F, Collard J and Julien J-P (1993) Progressive neuropathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 73: 35–46.
Didion SP, Sigmund CD and Faraci FM (2000) Impaired endothelial function in transgenic mice expressing both human renin and human angiotensinogen. Stroke 31: 760–765.
Forlino A, Porter FD, Lee EJ, Westphal H and Marini JC (1999) Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an a1(I) G349C substitution. J Biol Chem 274: 37923–37931.
Glasser SW, Korfhagen TR, Wert SE and Whitsett JA (1994) Transgenic models for study of pulmonary development and disease. Am J Physiol 267: L489–L497.
Grubb BR and Boucher RC (1999) Pathophysiology of genetargeted mouse models for cystic fibrosis. Physiol Rev 79,Suppl: S193–S214.
Harris A (1997) Towards an ovine model of cystic fibrosis. Human Mol Genet 6: 2191–2193.
Herschman HR, MacLaren DC, Iyer M, Namavari M, Bobinski K, Green LA, Wu L, Berk AJ, Toyokuni T, Barrio JR, Cherry SR, Phelps ME, Sandgren EP and Gambhir SS (2000) Seeing is believing: Non-invasive, quantitative and repetitive imaging of reporter gene expression in living animals, using positron emission tomography. J Neurosci Res 59(6): 699–705.
Higgins CF and Trezise AEO (1992) Cystic fibrosis mice have arrived! Human Mol Genet 1: 459–460.
Huang PC, Gaitan AE, Petters RM and Wong F (1993) Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. Proc Natl Acad Sci USA 90: 8484–8488.
Huang Y, Cideciyan AV, Aleman TS, Banin E, Huang J, Syed NA, et al. (2000) Optical coherence tomography (OCT) abnormalities in rhodopsin mutant transgenic swine with retinal degeneration. Exp Eye Res 70(2): 247–251.
Jin D, Petters RM and Im KS (1994) Transgenic livestock. Asian-Australasian J Anim Sci 7(1): 1–17.
Kobayashi N, Fujiwara T, Westerman KA, Inoue Y, Sakaguchi M, Noguchi H, et al. (2000) Prevention of acute liver failure in rats with reversibly immortalized human hepatocytes. Science 287: 1258–1262.
Kong J and Xu Z (1998) Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1. J Neurosci 18: 3241–3250.
Kong J and Xu Z (2000) Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis. Neurosci Lett 281(1): 72–74.
Li H, Wang J, Wilhelmsson H, Hansson A, Thoren P, Duffy J, et al. (2000) Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy. Proc Natl Acad Sci USA 97: 3467–3472.
Li Z-Y, Wong F, Chang JH, Possin DE, Hao Y, Petters RM et al. (1998) Rhodopsin transgenic pigs as a model for human retinitis pigmentosa. Invest Ophthalmol Vis Sci 39: 808–819.
Lobe CG, Koop KE, Kreppner W, Lomeli H, Gertsenstein M and Nagy A (1999) Z/AP. a double reporter for Cre-mediated recombination. Develop Biol 208: 281–292.
Louie AY, Huber MM, Ahrens ET, Rothbacher U, Moats R, Jacobs RE, et al. (2000) In vivo visualization of gene expression using magnetic resonance imaging. Nat Biotechnol 18(3): 321–325.
Mao X, Fujiwara Y and Orkin SH (1999) Improved reporter strain for monitoring Cre recombinase-mediated DNA excisions in mice. Develop Biol 96: 5037–5042.
Masliah E, Rockenstein E, Veinbergs I, Mallory M, Hashimoto M, Takeda A, et al. (2000) Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders. Science 287(5456): 1265–1269.
Nir I, Kedzierski W, Chen J and Travis GH (2000) Expression of Bcl-2 protects against photoreceptor degeneration in retinal degeneration slow (rds) mice. J Neurosci 20(6): 2150–2154.
Petters RM, Alexander CA, Wells KD, Collins EB, Sommer JR, Blanton MR, et al. (1997) Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nat Biotech 15: 965–
Sauer B (1998) Inducible gene targeting in mice using the Cre/lox system. Methods: A Companion to Methods in Enzymol 14: 381–392.
Shastry BS (1998) Gene disruption in mice: Models of development and disease. Mol Cell Biochem 181: 163–179.
Sinn PL and Sigmund CD (2000) Transgenic models as tools for studying the regulation of human renin expression. Regul Pept 86(1–3): 77–82.
Soriano P (1999) Generalized LacZ expression with the ROSA26 Cre reporter strain. Nat Genet 21: 70–71.
Trudel M, Saadane N, Garel MC, Bardakdjian-Michau J, Blouquit Y, Guerquin-Kern JL, et al. (1991). Towards a transgenic mouse model of sickle cell disease: hemoglobin SAD. EMBO J 10: 3157–3165.
Tso MOM, Li WW, Shang C, Lam TT, Hao Y, Petters RM et al. (1997). A pathologic study of degeneration of the rod and cone populations of the rhodopsin Pro347Leu transgenic pigs. Trans Am Ophthalmol Soc 95: 467–483.
Wang L, Ogburn CE, Ware CB, Ladiges WC, Youssoufian H, Martin GM et al. (2000) Cellular Werner phenotypes in mice expressing a putative dominant-negative human WRN gene. Genetics 154(1): 357–362.
Williams RS and Wagner PD (2000) Transgenic animals in integrative biology: approaches and interpretations of outcome. J Appl Physiol 88: 1119–1126.
Xu Z-S, Cork LC, Griffin JW and Cleveland DW (1993) Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 73: 23–33.