Evaluation of canine COL4A3 and COL4A4 as candidates for familial renal disease in the Norwegian elkhound

被引:3
|
作者
Wiersma, AC
Millon, LV
van Dongen, AM
van Oost, BA [1 ]
Bannasch, DL
机构
[1] Univ Utrecht, Fac Vet Med, Dept Anim, NL-3508 TD Utrecht, Netherlands
[2] Univ Utrecht, Fac Vet Med, Dept Clin Sci Compan Anim, NL-3508 TD Utrecht, Netherlands
[3] Univ Calif Davis, Vet Genet Lab, Davis, CA 95616 USA
[4] Univ Calif Davis, Sch Vet Med, Dept Populat Hlth & Reprod, Davis, CA 95616 USA
关键词
D O I
10.1093/jhered/esi068
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
The collagen type IV alpha 3 and alpha 4 chains (COL4A3 and COL4A4) are part of the specialized glomerular basement membrane in the kidney. In human these genes are responsible for Alport syndrome (a type of hereditary nephritis). Histopathological similarities between kidneys of Norwegian elkhound dogs affected with familial renal disease and human Alport syndrome were the basis for a candidate gene approach in Norwegian elkhounds. Three microsatellites - tightly linked to canine COL4A3 and COL4A4-were developed. The microsatellites were used to analyze linkage between COL4A3 and COL4A4 and familial renal disease in a Norwegian elkhound pedigree segregating this disease. Presence of one recombinant between familial renal disease and COL4A3/COL4A4 suggests that these genes are not likely candidates for familial renal disease in this breed.
引用
收藏
页码:739 / 744
页数:6
相关论文
共 50 条
  • [1] Canine COL4A3 and COL4A4:: Sequencing, mapping and genomic organization
    Wiersma, AC
    Millon, LV
    Hestand, MS
    Van Oost, BA
    Bannasch, DL
    [J]. DNA SEQUENCE, 2005, 16 (04): : 241 - 251
  • [2] COL4A3/COL4A4 AS A CAUSE OF MULTICYSTIC KIDNEY DISEASE
    Bosch, Teresa Bada
    Sevillano, Angel
    Afonso, Sara
    Gutierrez, Eduardo
    Escribano, Teresa Cavero
    Gutierrez, Elena
    Garcia, Florencio
    Morales, Enrique
    Caro Espada, Paula Jara
    Praga, Manuel
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2021, 36
  • [3] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria
    Badenas, C
    Praga, M
    Tazón, B
    Heidet, L
    Arrondel, C
    Armengol, A
    Andrés, A
    Morales, E
    Camacho, JA
    Lens, X
    Dávila, S
    Milà, M
    Antignac, C
    Darnell, A
    Torra, R
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (05): : 1248 - 1254
  • [4] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.
    Badenas, C
    Tazon, B
    Heidet, L
    Arrondel, C
    Mila, M
    Antignac, C
    Darnell, A
    Torra, R
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 641 - 641
  • [5] ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)
    Caprara, Carlotta
    Corradi, Valentina
    Rigato, Matteo
    Mancini, Barbara
    Marzano, Nenzi
    Perbellini, Omar
    Gastaldon, Fiorella
    Ronco, Claudio
    Zanella, Monica
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I1962 - I1962
  • [6] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus
    Stabuc-Silih, Mirna
    Ravnik-Glavac, Metka
    Glavac, Damjan
    Hawlina, Marko
    Strazisar, Mojca
    [J]. MOLECULAR VISION, 2009, 15 (300-01): : 2848 - 2859
  • [7] Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
    Mastrangelo, Antonio
    Madeira, Catarina
    Castorina, Pierangela
    Giani, Marisa
    Montini, Giovanni
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 (12) : 2398 - 2407
  • [8] Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis
    Malone, Andrew F.
    Phelan, Paul J.
    Hall, Gentzon
    Cetincelik, Umran
    Homstad, Alison
    Alonso, Andrea S.
    Jiang, Ruiji
    Lindsey, Thomas B.
    Wu, Guanghong
    Sparks, Matthew A.
    Smith, Stephen R.
    Webb, Nicholas J. A.
    Kalra, Philip A.
    Adeyemo, Adebowale A.
    Shaw, Andrey S.
    Conlon, Peter J.
    Jennette, J. Charles
    Howell, David N.
    Winn, Michelle P.
    Gbadegesin, Rasheed A.
    [J]. KIDNEY INTERNATIONAL, 2014, 86 (06) : 1253 - 1259
  • [9] ARE KIDNEY CYSTSMORE COMMON IN PEOPLE WITH COL4A3/COL4A4 PATHOGENIC VARIANTS?
    Pilco Teran, Melissa
    Furlano, Monica
    Pybus, Marc
    Martinez Jimenez, Victor
    Rius Peris, Asuncion
    Perez Gomez, Maria Vanessa
    Berna Redondo, Gerson
    Fayos De Arizon, Leonor
    Ars, Elisabet
    Torra, Roser
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2023, 38 : I220 - I221
  • [10] Factors affecting disease progression in individuals with heterozygous COL4A3/COL4A4 pathogenic variants
    Pilco Teran, Melissa
    Furlano, Monica
    Pybus, Marc
    Martinez Jimenez, Victor
    Goma-Garces, Elena
    Galan Carrillo, Isabel
    Leon, Rafael
    Soler Romeo, Maria Jose
    Fayos de Arizon, Leonor
    Perera, Alexandre
    Ars, Elisabet
    Torra, Roser
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I416 - I417