Looking the cow in the eye: Deletion in the NID1 gene is associated with recessive inherited cataract in romagnola cattle

PLoS ONE

Volumn 9, Issue 10, 2014, Pages

  Murgiano, Leonardo ^a   Jagannathan, Vidhya ^a   Calderoni, Valerio ^b   Joechler, Monika ^c   Gentile, Arcangelo ^c   Drögemüller, Cord ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b Bovine Practitioner   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CATARACT; CATARACTOGENESIS; CATTLE; CHROMOSOME; CHROMOSOME 28; CONTROLLED STUDY; EXON SKIPPING; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENOTYPING TECHNIQUE; HOMOZYGOSITY; MALE; MISSENSE MUTATION; NID1 GENE; NONHUMAN; NUCLEOTIDE SEQUENCE; RECESSIVE INHERITANCE; ROMAGNOLA; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; ANIMAL; BOVINE; BREEDING; GENETICS; METABOLISM; MUTATION; PEDIGREE; PHENOTYPE; RECESSIVE GENE;

BOS;

ENTACTIN; MEMBRANE PROTEIN;

ANIMALS; BREEDING; CATARACT; CATTLE; GENE DELETION; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84908568834     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0110628     Document Type: Article

References (66)

1. Koenigsberg R (1989) Churchill's Medical Dictionary. Churchill Livingstone Inc. 308 p.
2. Deng H, Yuan L (2014) Molecular genetics of congenital nuclear cataract. Eur J Med Genet 57: 113-122.
3. Yi J, Yun J, Li ZK, Xu CT, Pan BR (2011) Epidemiology and molecular genetics of congenital cataracts. Int J Ophthalmol 4: 422-432.
4. Mesa R, Bassnett S (2013) UV-B-induced DNA damage and repair in the mouse lens. Invest Ophthalmol Vis Sci 54: 6789-6797.
5. Sinha R, Kumar C, Titiyal JS (2009) Etiopathogenesis of cataract: Journal review. Indian J Ophthalmol 2009 57: 245-249.
6. Petrash JM (2013) Aging and age-related diseases of the ocular lens and vitreous body. Invest Ophthalmol Vis Sci 54: ORSF54-59.
7. Chew EY (2013) Nutrition effects on ocular diseases in the aging eye. Invest Ophthalmol Vis Sci 54: ORSF42-47.
8. Churchill A, Graw J (2011) Clinical and experimental advances in congenital and paediatric cataracts. Philos Trans R Soc Lond B Biol Sci 366: 1234-1249.
9. Hejtmancik JF (2008) Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 19: 134-149
10. He W, Li S (2000) Congenital cataracts: gene mapping. Hum Genet 106: 1-13.
11. Huang B, He W (2010) Molecular characteristics of inherited congenital cataracts. Eur J Med Genet 53: 347-357
12. Liang J (2004) Interactions and chaperone function of A-crystallin with T5PgC-crystallin mutant. Protein Sci 13: 2476-2482.
13. Shiels A, Bennett TM, Hejtmancik JF (2010) Cat-Map: putting cataract on the map. MolVis 16: 2007-2015.
14. Liu B, Song S, Hanson H, Liang J (2008) Protein-protein interactions involving congenital cataract T5P cC-crystallin mutant: a confocal fluorescence microscopy study. Exp Eye Res 87: 515-520.
15. Talla V, Narayanan C, Srinivasan N, Balasubramanian D (2006) Mutation causing self-aggregation in human cC-crystallin leading to congenital cataract. Invest Ophthalmol Vis Sci 47: 5212-5217.
16. Hunter LS, Sidjanin DJ, Johnson JL, Zangerl B, Galibert F, et al. (2006) Radiation hybrid mapping of cataract genes in the dog. Mol Vis 12: 588-596.
17. Gelatt KN, Das ND (1984) Animal models for inherited cataracts: a review. Curr Eye Res 3: 765-778.
18. Tripathi BJ, Tripathi RC, Borisuth NS, Dhaliwal R, Dhaliwal D (1991) Rodent models of congenital and hereditary cataract in man. Lens Eye Toxic Res 8: 373-413.
19. Wilson GR, Morton JD, Palmer DN, McEwan JC, Gately K, et al. (2012) The locus for an inherited cataract in sheep maps to ovine chromosome 6. Mol Vis 18: 1384-1394.
20. Morton JD, Lee HY, McDermott JD, Robertson LJ, Bickerstaffe R, et al. (2013) Macrocyclic calpain inhibitor slows the development of inherited cortical cataracts in a sheep model. Invest Ophthalmol Vis Sci 54: 389-395.
21. Detlefson JA, Yapp WW (1920) The inheritance of congenital cataract in cattle. Amer Nat 54: 277-280.
22. Gregory PW, Mead SW, Regan WM (1943) A congenital hereditary eye defect of cattle. J Hered 34: 125-128.
23. Krump L, O'Grady L, Lorenz I, Grimes T (2014) Congenital cataracts in an Ayrshire herd: a herd case report. Ir Vet J 67: 2.
24. Hässig M, Jud F, Naegeli H, Kuppe J, Spiess M (2009) Prevalence of nuclear cataract in Swiss veal calves and its possible association with mobile telephone antenna base stations. Schweiz Archiv Tierheilkd 151: 471-478.
25. Hirano T, Matsuhashi T, Kobayashi N, Watanabe T, Sugimoto Y (2012) Identification of an FBN1 mutation in bovine Marfan syndrome-like disease. Anim Genet 43: 11-17.
26. Testoni S, Bartolone E, Rossi M, Patrignani A, Bruggmann R, et al. (2012) KDM2B is implicated in bovine lethal multi-organic developmental dysplasia. PLoS One 7: e45634.
27. Murgiano L, Sacchetto R, Testoni S, Dorotea T, Mascarello F, et al. (2012) Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. BMC Vet Res 8: 186.
28. Clark JI, Matsushima H, David LL, Clark JM (1999) Lens cytoskeleton and transparency: a model. Eye (Lond) 13: 417-424.
29. Rausch T, Zichner T, Schlattl A; Stütz AM, Benes V, et al. (2012) DELLY: structural variant discovery by integrated paired-end and split-read analysis Bioinformatics 28: i333-i339.
30. Salmivirta K, Talts JF, Olsson M, Sasaki T, Timpl R, et al. (2002) Binding of mouse nidogen-2 to basement membrane components and cells and its expression in embryonic and adult tissues suggest complementary functions of the two nidogens. Exp Cell Res 279: 188-201.
31. Dong L, Chen Y, Lewis M, Hsieh JC, Reing J, et al. (2002) Neurologic defects and selective disruption of basement membranes in mice lacking entactin-1/nidogen-1. Lab Invest 82: 1617-1630.
32. Chang TC, Yang Y, Yasue H, Bharti AK, Retzel EF (2011) The expansion of the PRAME gene family in Eutheria. PLoS One 6: e16867.
33. Murgiano L, Testoni S, Drögemüller C, Bolcato M, Gentile A (2013) Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. Vet J 195: 238-240.
34. Murgiano L, Drögemüller C, Sbarra F, Bolcato M, Gentile A (2014). Prevalence of paunch calf syndrome carriers in Italian Romagnola cattle. Vet J 200: 459-461.
35. Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, et al. (2013) Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat 34: 1075-1079.
36. Takagi J, Yang Y, Liu JH, Wang JH, Springer TA (2003) Complex between nidogen and laminin fragments reveals a paradigmatic beta-propeller interface. Nature 424: 969-974.
37. Carlin B, Jaffe R, Bender B, Chung AE (1981) Entactin, a novel basal lamina-associated sulfated glycoprotein. J Biol Chem 256: 5209-5214.
38. Timpl R, Dziadek M, Fujiwara S, Nowack H, Wick G (1983) Nidogen: a new, self-aggregating basement membrane protein. Eur J Biochem 137: 455-465.
39. Kimura N, Toyoshima T, Kojima T, Shimane M (1998) Entactin-2: a new member of basement membrane protein with high homology to entactin/nidogen. Exp Cell Res 241: 36-45.
40. Kohfeldt E, Sasaki T, Göhring W, Timpl R (1998) Nidogen-2: a new basement membrane protein with diverse binding properties. J Mol Biol 282: 99-109.
41. Yurchenco PD, Amenta PS, Patton BL (2004) Basement membrane assembly, stability and activities observed through a developmental lens. Matrix Biol 22: 521-538.
42. Yurchenco PD, Patton BL (2009) Developmental and pathogenic mechanisms of basement membrane assembly. Curr Pharm Des 15: 1277-1294.
43. Fox J, Mayer U, Nischt R, Aumailley M, Reinhardt D, et al. (1991) Recombinant nidogen consists of three globular domains and mediates binding of laminin to collagen type IV. EMBO J 10: 3137-3146.
44. Aumailley M, Battaglia C, Mayer U, Reinhardt D, Nischt R, et al. (1993) Nidogen mediates the formation of ternary complexes of basement membrane components. Kidney Int 43: 7-12.
45. Murshed M, Smyth N, Miosge M, Karolat J, Krieg T, et al. (2000) The absence of nidogen-1 does not affect murine basement membrane development. Mol Cell Biol 20: 7007-7012.
46. Schymeinsky J, Nedbal S, Miosge N, Pöschl E, Rao C, et al. (2002) Gene structure and functional analysis of the mouse nidogen-2 gene: nidogen-2 is not essential for basement membrane formation in mice. Mol Cell Biol 22: 6820-6830.
47. Miosge N, Sasaki T, Timpl R (2002) Evidence of nidogen-2 compensation for nidogen-1 deficiency in transgenic mice. Matrix Biol 21: 611-621.
48. Miosge N, Holzhausen S, Zelent C, Sprysch P, Herken R (2001) Nidogen-1 and nidogen-2 are found in basement membranes during human embryonic development. Histochem J 33: 523-530.
49. Neu R, Adams S, Munz B (2006) Differential expression of entactin-1/nidogen-1 andentactin-2/nidogen-2 in myogenic differentiation. Differentiation 74: 573-582.
50. Bader B, Smyth N, Nedbal S, Miosge N, Baranowsky A, et al. (2005) Compound genetic ablation of nidogen 1 and 2 causes basement membrane defects and perinatal lethality in mice. Mol Cell Biol 25: 6846-6856.
51. Vasudevan A, Ho MS, Weiergräber M, Nischt R, Schneider T (2010) Basement membrane protein nidogen-1 shapes hippocampal synaptic plasticity and excitability. Hippocampus 20: 608-620.
52. Böse K, Nischt R, Page A, Bader BL, Paulsson M, et al. (2006) Loss of nidogen-1 and -2 results in syndactyly and changes in limb development. J Biol Chem 281: 39620-39629.
53. Gresham HD, Graham IL, Griffin GL, Hsieh JC, Dong LJ, et al. (1996) Domain-specific interactions between entactin and neutrophil integrins: G2 domain ligation of integrin alpha3beta1 and E domain ligation of the leukocyte response integrin signal for different responses. J Biol Chem 271: 30587-30594.
54. Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, et al. (2013) Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat 34: 1075-1079.
55. Aszódi A, Legate KR, Nakchbandi I, Fässler R (2006) What mouse mutants teach us about extracellular matrix function. Annu Rev Cell Dev Biol 22: 591-621.
56. Breitkreutz D, Koxholt I, Thiemann K, Nischt R (2013) Skin Basement Membrane: The Foundation of Epidermal Integrity - BM Functions and Diverse Roles of Bridging Molecules Nidogen and Perlecan. BioMed Research Int DOI: 10.1155.
57. May CA (2012) Distribution of nidogen in the murine eye and ocular phenotype of the nidogen-1 knockout mouse. ISRN Ophthalmol doi: 10.5402.
58. Marchitti SA, Bateman JB, Petrash JM, Vasiliou V (2008) Mouse Models of the Cornea and Lens: Understanding Ocular Disease. In: Tsonis PA, editor, animal models in eye research. Academic Press, Elsiever.
59. Aulchenko YS, Ripke S, Isaacs A, van Duijn CM (2007) GenABEL: an R library for genome-wide association analysis. Bioinformatics 23: 1294-1296.
60. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, et al. (2007) PLINK: a toolset for whole-genome association and population-based linkage analysis. Am J Hum Genet 81: 559-575.
61. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
62. Hompage Samtools (2014). Available: http://samtools.sourceforge.net. Accessed 2014 Feb 27.
63. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303.
64. Homepage European Nucleotide Archive (2014). Available: http://www.ebi.ac.uk/ena/data/view/PRJEB5965. Accessed 2014 Jul 14.
65. Cingolani P, Platts A, Coon M, Nguyen T, Wang L, et al. (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly 6: 80-92.
66. Untergrasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, et al. (2012) Primer3 - new capabilities and interfaces. Nucleic Acids Res 40: e115.