An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9

Molecular Vision

Volumn 16, Issue , 2010, Pages 1549-1569

  Goldstein, Orly ^a   Mezey, Jason G ^b,c   Boyko, Adam R ^d   Gao, Chuan ^b   Wang, Wei ^e   Bustamante, Carlos D ^d   Anguish, Lynne J ^a   Jordan, Julie Ann ^a   Pearce Kelling, Susan E ^f   Aguirre, Gustavo D ^g   Acland, Gregory M ^a  

^a Animal Health Diagnostic Center   (United States)

^b Plant Breeding and Genetics Section in the School of Integrative Plant Science   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Department of Obstetrics Gynecology   (United States)

^f OptiGen   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAM PROTEIN; ADAM9 PROTEIN; UNCLASSIFIED DRUG;

AGE; ANIMAL TISSUE; ARTICLE; CHROMOSOME 16; CONE ROD DYSTROPHY 3; CONE ROD DYSTROPHY 9; CONTROLLED STUDY; DOG; ELECTRORETINOGRAPHY; EXON; EYE EXAMINATION; GENE DELETION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC CODE; HISTOPATHOLOGY; KNOCKOUT MOUSE; MICROVILLUS; NONHUMAN; ONSET AGE; PHENOTYPE; PHOTORECEPTOR OUTER SEGMENT; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAM PROTEINS; ANIMALS; BREEDING; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; DOG DISEASES; DOGS; ELECTRORETINOGRAPHY; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; MUTATION; PHENOTYPE; RETINA; RETINITIS PIGMENTOSA;

EID: 77955621176     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, Vonholdt BM, Rhue A, Boyko A, Byers A, Wong A, Mosher DS, Elkahloun AG, Spady TC, André C, Lark KG, Cargill M, Bustamante CD, Wayne RK, Ostrander EA. Coat variation in the domestic dog is governed by variants in three genes. Science 2009; 326:150-3.
2. Drögemüller C, Becker D, Brunner A, Haase B, Kircher P, Seeliger F, Fehr M, Baumann U, Lindblad-Toh K, Leeb T. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 2009; 5:e1000579.
3. Bannasch D, Young A, Myers J, Truvé K, Dickinson P, Gregg J, Davis R, Bongcam-Rudloff E, Webster MT, Lindblad-Toh K, Pedersen N. Localization of canine brachycephaly using an across breed mapping approach. PLoS ONE 2010; 5:e9632.
4. Goldstein O, Zangerl B, Pearce-Kelling S, Sidjanin DJ, Kijas JW, Felix J, Acland GM, Aguirre GD. Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rodcone degeneration interval and identifies ancestral diseasetransmitting chromosome. Genomics 2006; 88:541-50.
5. Sutter NB, Eberle MA, Parker HG, Pullar BJ, Kirkness EF, Kruglyak L, Ostrander EA. Extensive and breed-specific linkage disequilibrium in Canis familiaris. Genome Res 2004; 14:2388-96.
6. Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M, Clamp M, Chang JL, Kulbokas EJ 3rd, Zody MC, Mauceli E, Xie X, Breen M, Wayne RK, Ostrander EA, Ponting CP, Galibert F, Smith DR, DeJong PJ, Kirkness E, Alvarez P, Biagi T, Brockman W, Butler J, Chin CW, Cook A, Cuff J, Daly MJ, DeCaprio D, Gnerre S, Grabherr M, Kellis M, Kleber M, Bardeleben C, Goodstadt L, Heger A, Hitte C, Kim L, Koepfli KP, Parker HG, Pollinger JP, Searle SM, Sutter NB, Thomas R, Webber C, Baldwin J, Abebe A, Abouelleil A, Aftuck L, Ait-Zahra M, Aldredge T, Allen N, An P, Anderson S, Antoine C, Arachchi H, Aslam A, Ayotte L, Bachantsang P, Barry A, Bayul T, Benamara M, Berlin A, Bessette D, Blitshteyn B, Bloom T, Blye J, Boguslavskiy L, Bonnet C, Boukhgalter B, Brown A, Cahill P, Calixte N, Camarata J, Cheshatsang Y, Chu J, Citroen M, Collymore A, Cooke P, Dawoe T, Daza R, Decktor K, DeGray S, Dhargay N, Dooley K, Dooley K, Dorje P, Dorjee K, Dorris L, Duffey N, Dupes A, Egbiremolen O, Elong R, Falk J, Farina A, Faro S, Ferguson D, Ferreira P, Fisher S, FitzGerald M, Foley K, Foley C, Franke A, Friedrich D, Gage D, Garber M, Gearin G, Giannoukos G, Goode T, Goyette A, Graham J, Grandbois E, Gyaltsen K, Hafez N, Hagopian D, Hagos B, Hall J, Healy C, Hegarty R, Honan T, Horn A, Houde N, Hughes L, Hunnicutt L, Husby M, Jester B, Jones C, Kamat A, Kanga B, Kells C, Khazanovich D, Kieu AC, Kisner P, Kumar M, Lance K, Landers T, Lara M, Lee W, Leger JP, Lennon N, Leuper L, LeVine S, Liu J, Liu X, Lokyitsang Y, Lokyitsang T, Lui A, Macdonald J, Major J, Marabella R, Maru K, Matthews C, McDonough S, Mehta T, Meldrim J, Melnikov A, Meneus L, Mihalev A, Mihova T, Miller K, Mittelman R, Mlenga V, Mulrain L, Munson G, Navidi A, Naylor J, Nguyen T, Nguyen N, Nguyen C, Nguyen T, Nicol R, Norbu N, Norbu C, Novod N, Nyima T, Olandt P, O'Neill B, O'Neill K, Osman S, Oyono L, Patti C, Perrin D, Phunkhang P, Pierre F, Priest M, Rachupka A, Raghuraman S, Rameau R, Ray V, Raymond C, Rege F, Rise C, Rogers J, Rogov P, Sahalie J, Settipalli S, Sharpe T, Shea T, Sheehan M, Sherpa N, Shi J, Shih D, Sloan J, Smith C, Sparrow T, Stalker J, Stange-Thomann N, Stavropoulos S, Stone C, Stone S, Sykes S, Tchuinga P, Tenzing P, Tesfaye S, Thoulutsang D, Thoulutsang Y, Topham K, Topping I, Tsamla T, Vassiliev H, Venkataraman V, Vo A, Wangchuk T, Wangdi T, Weiand M, Wilkinson J, Wilson A, Yadav S, Yang S, Yang X, Young G, Yu Q, Zainoun J, Zembek L, Zimmer A, Lander ES. Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 2005; 438:803-19.
7. Wilbe M, Jokinen P, Truvé K, Seppala EH, Karlsson EK, Biagi T, Hughes A, Bannasch D, Andersson G, Hansson-Hamlin H, Lohi H, Lindblad-Toh K. Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex. Nat Genet 2010; 42:250-4.
8. Vonholdt BM, Pollinger JP, Lohmueller KE, Han E, Parker HG, Quignon P, Degenhardt JD, Boyko AR, Earl DA, Auton A, Reynolds A, Bryc K, Brisbin A, Knowles JC, Mosher DS, Spady TC, Elkahloun A, Geffen E, Pilot M, Jedrzejewski W, Greco C, Randi E, Bannasch D, Wilton A, Shearman J, Musiani M, Cargill M, Jones PG, Qian Z, Huang W, Ding ZL, Zhang YP, Bustamante CD, Ostrander EA, Novembre J, Wayne RK. Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature 2010; 464:898-902.
9. Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF. Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet 2009; 84:683-91.
10. Acland GM. Diagnosis and differentiation of retinal diseases in small animals by electroretinography. Semin Vet Med Surg (Small Anim) 1988; 3:15-27.
11. Zeiss CJ, Ray K, Acland GM, Aguirre GD. Mapping of Xlinked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). Hum Mol Genet 2000; 9:531-7.
12. Acland GM, Aguirre GD. Retinal degenerations in the dog. IV: Early retinal degeneration in Norwegian elkhounds. Exp Eye Res 1987; 44:491-521.
13. Boyko AR, Quignon P, Li L, Schoenebeck J, Degenhardt JD, Lohmueller KE, Brisbin A, Parker HG, vonHoldt BM, Cargill M, Auton A, Reynolds A, Elkahloun AG, Castelhano M, Mosher DS, Sutter NB, Johnson GS, Novembre J, Hubisz MJ, Siepel A, Wayne RK, Bustamante CD, Ostrander EA. A simple genetic architecture underlies morphological variation in dogs. PLoS Biol. In press
14. Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. Invest Ophthalmol Vis Sci 2001; 42:2458-65.
15. Cruz F, Vilà C, Webster MT. The legacy of domestication: accumulation of deleterious mutations in the dog genome. Mol Biol Evol 2008; 25:2331-6.
16. Galibert F, André C, Hitte C. Dog as a mammalian genetic model. Med Sci (Paris) 2004; 20:761-6.
17. Shearin AL, Ostrander EA. Leading the way: canine models of genomics and disease. Dis Model Mech. 2010; 3:27-34.
18. Tsai KL, Clark LA, Murphy KE. Understanding hereditary diseases using the dog and human as companion model systems. Mamm Genome 2007; 18:444-51.
19. Wayne RK, Ostrander EA. Lessons learned from the dog genome. Trends Genet 2007; 23:557-67.
20. Aguirre GD, Acland GM. Models, Mutants And Man: Searching For Unique Phenotypes And Genes In The Dog Model Of Inherited Retinal Degeneration. In: Ostrander EA, Giger U, Lindblad-Toh K, editors. The Dog and Its Genome. Chapter 10. Woodbury NY: Cold Spring Harbor Laboratory Press; 2006.
21. Beltran WA. The use of canine models of inherited retinal degeneration to test novel therapeutic approaches. Vet Ophthalmol 2009; 12:192-204.
22. Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD. Identical mutation in a anovel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in man. Genomics 2006; 88:551-63.
23. Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001; 28:92-5.
24. Acland GM, Aguirre GD, Bennett J, Aleman TS, Cideciyan AV, Bennicelli J, Dejneka NS, Pearce-Kelling SE, Maguire AM, Palczewski K, Hauswirth WW, Jacobson SG. Long-term restoration of rod and cone vision by single dose rAAVmediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther 2005; 12:1072-82.
25. Komáromy AM, Alexander JJ, Rowlan JS, Garcia MM, Chiodo VA, Kaya A, Tanaka JC, Acland GM, Hauswirth WW, Aguirre GD. Gene therapy rescues cone function in congenital achromatopsia. Hum Mol Genet 2010; 19:2581-93.
26. Tao W. Application of encapsulated cell technology for retinal degenerative diseases. Expert Opin Biol Ther 2006; 6:717-26.
27. de la Chapelle A, Wright FA. Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc Natl Acad Sci USA 1998; 95:12416-23.
28. Peltonen L, Palotie A, Lange K. Use of population isolates for mapping complex traits. Nat Rev Genet 2000; 1:182-90.
29. Varilo T, Paunio T, Parker A, Perola M, Meyer J, Terwilliger JD, Peltonen L. The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories. Hum Mol Genet 2003; 12:51-9.
30. Sheffield VC, Stone EM, Carmi R. Use of isolated inbred human populations for identification of disease genes. Trends Genet 1998; 14:391-6.
31. Service S, DeYoung J, Karayiorgou M, Roos JL, Pretorious H, Bedoya G, Ospina J, Ruiz-Linares A, Macedo A, Palha JA, Heutink P, Aulchenko Y, Oostra B, van Duijn C, Jarvelin MR, Varilo T, Peddle L, Rahman P, Piras G, Monne M, Murray S, Galver L, Peltonen L, Sabatti C, Collins A, Freimer N. Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 2006; 38:556-60.
32. Dodman NH, Karlsson EK, Moon-Fanelli A, Galdzicka M, Perloski M, Shuster L, Lindblad-Toh K, Ginns EI. A canine chromosome 7 locus confers compulsive disorder susceptibility. Mol Psychiatry 2010; 15:8-10.
33. Karlsson EK, Baranowska I, Wade CM, Salmon Hillbertz NH, Zody MC, Anderson N, Biagi TM, Patterson N, Pielberg GR, Kulbokas EJ 3rd, Comstock KE, Keller ET, Mesirov JP, von Euler H, Kämpe O, Hedhammar A, Lander ES, Andersson G, Andersson L, Lindblad-Toh K. Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet 2007; 39:1321-8.
34. Karlsson EK, Lindblad-Toh K. Leader of the pack: gene mapping in dogs and other model organisms. Nat Rev Genet 2008; 9:713-25.
35. Salmon Hillbertz NH, Isaksson M, Karlsson EK, Hellmén E, Pielberg GR, Savolainen P, Wade CM, von Euler H, Gustafson U, Hedhammar A, Nilsson M, Lindblad-Toh K, Andersson L, Andersson G. Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nat Genet 2007; 39:1318-20.
36. Weskamp G, Cai H, Brodie TA, Higashyama S, Manova K, Ludwig T, Blobel CP. Mice lacking the metalloproteasedisintegrin MDC9 (ADAM9) have no evident major abnormalities during development or adult life. Mol Cell Biol 2002; 22:1537-44.
37. Zhou M, Graham R, Russell G, Croucher PI. MDC-9 (ADAM-9/Meltrin gamma) functions as an adhesion molecule by binding the alpha(v)beta(5) integrin. Biochem Biophys Res Commun 2001; 280:574-80.
38. Izumi Y, Hirata M, Hasuwa H, Iwamoto R, Umata T, Miyado K, Tamai Y, Kurisaki T, Sehara-Fujisawa A, Ohno S, Mekada E. A metalloprotease-disintegrin, MDC9/meltrin-gamma/ ADAM9 and PKCdelta are involved in TPA-induced ectodomain shedding of membrane-anchored heparinbinding EGF-like growth factor. EMBO J 1998; 17:7260-72.
39. Asai M, Hattori C, Szabó B, Sasagawa N, Maruyama K, Tanuma S, Ishiura S. Putative function of ADAM9, ADAM10, and ADAM17 as APP alpha-secretase. Biochem Biophys Res Commun 2003; 301:231-5.