OMIA 000363-9913 : Factor XI deficiency in Bos taurus

In other species: dog , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 264900

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

Species-specific symbol: FXI

Mapping: 27q14

Molecular basis: In a conference abstract, Haton et al. (2000) reported that, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), they had identified a 76-bp insertion in exon 12 of the Factor XI gene as being causative of Factor XI deficiency in Holstein cattle. This discovery was fully described by Marron et al. (2004) who explained that "This insertion introduces a stop codon that results in a mature FXI protein lacking the functional protease domain encoded by exons 13, 14 and 15."

A second insertion (involving 15 bp in exon 9 of the same gene) was reported in Japanese Black cattle by Kunieda et al. (2005).

Mondal et al. (2016) reported the 76bp insertion variant in Sahiwal cattle.

Genetic testing: Marron et al. (2004) developed a diagnostic test based on a 76 bp insertion in exon 12 of the FXI gene for genotyping Holstein cattle (Mohammad Shariflou 13/11/2006).

Breeds: Holstein, Japanese Black.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
F11 coagulation factor XI Bos taurus 27 NC_037354.1 (16294235..16313378) F11 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Japanese Black Factor XI deficiency F11 insertion, small (<=20) UMD3.1 27 g.15362363C>ATATGTGCAGAATATA c.870insC>ATATGTGCAGAATATA p.Phe290LeuTyrValGlnAsnIle "an insertion of 15 nucleotides in exon 9" 2005 16104386 Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)
Holstein Sahiwal Factor XI deficiency F11 insertion, gross (>20) UMD3.1 27 g.15367048 c.1406ins76 a 76-bp insertion in exon 12 of the Factor XI gene 2004 15566468 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2016 Mondal, K., Chakravarti, S., Ghosh, A.K., Kumar, S., Nayak, B., Nandi, S., Sarkar, U., Deb, R., De, A., Biswas, J. :
Novel identification of Factor XI deficiency in Indian Sahiwal (Bos indicus) cattle. Mol Biol Rep 43:213-9, 2016. Pubmed reference: 26892783. DOI: 10.1007/s11033-016-3955-5.
2012 Akyuz, B., Sariozkan, S., Bayram, D. :
Factor XI mutation in normally fertile and repeat breeding Holstein cows in the Middle Anatolian region of Turkey: a financial approach Animal Production Science 52:1042-1045, 2012. DOI: 10.1071/AN12072.
2011 Krappmann, K., Weikard, R., Gerst, S., Wolf, C., Kühn, C.h. :
A genetic predisposition for bovine neonatal pancytopenia is not due to mutations in coagulation factor XI. Vet J 190:225-9, 2011. Pubmed reference: 21087874. DOI: 10.1016/j.tvjl.2010.10.007.
2010 Meydan, H., Yildiz, MA., Agerholm, JS. :
Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. Acta Vet Scand 52:56, 2010. Pubmed reference: 20929557. DOI: 10.1186/1751-0147-52-56.
2009 Ghanem, ME., Nishibori, M. :
Genetic Description of Factor XI Deficiency in Holstein Semen in Western Japan. Reprod Domest Anim 44:792-796, 2009. Pubmed reference: 18992095. DOI: 10.1111/j.1439-0531.2008.01080.x.
Gurgul, A., Rubis, D., Slota, E. :
Identification of carriers of the mutation causing coagulation factor XI deficiency in Polish Holstein-Friesian cattle. J Appl Genet 50:149-52, 2009. Pubmed reference: 19433912. DOI: 10.1007/BF03195666.
Meydan, H., Yildiz, MA., Ozdil, F., Gedik, Y., Ozbeyaz, C. :
Identification of factor XI deficiency in Holstein cattle in Turkey. Acta Vet Scand 51:5, 2009. Pubmed reference: 19161609. DOI: 10.1186/1751-0147-51-5.
2008 Ohba, Y., Takasu, M., Nishii, N., Takeda, E., Maeda, S., Kunieda, T., Kitagawa, H. :
Pedigree analysis of factor XI deficiency in Japanese black cattle. J Vet Med Sci 70:297-9, 2008. Pubmed reference: 18388432.
2006 Mukhopadhyaya, PN., Jha, M., Muraleedharan, P., Gupta, RR., Rathod, RN., Mehta, HH., Khoda, VK. :
Simulation of normal, carrier and affected controls for large-scale genotyping of cattle for factor XI deficiency. Genet Mol Res 5:323-32, 2006. Pubmed reference: 16819712.
Watanabe, D., Hirano, T., Sugimoto, Y., Ogata, Y., Abe, S., Ando, T., Ohtsuka, H., Kunieda, T., Kawamura, S. :
Carrier rate of Factor XI deficiency in stunted Japanese black cattle. J Vet Med Sci 68:1251-5, 2006. Pubmed reference: 17213692.
2005 Ghanem, ME., Nishibori, M., Nakao, T., Moriyoshi, M. :
DNA extraction from bovine mummified fetuses and detection of factor XI gene deficiency in the mummies. J Reprod Dev 51:347-52, 2005. Pubmed reference: 15785014.
Ghanem, ME., Nishibori, M., Nakao, T., Nakatani, K., Akita, M. :
Factor XI mutation in a Holstein cow with repeat breeding in Japan. J Vet Med Sci 67:713-5, 2005. Pubmed reference: 16082120.
Kunieda, M., Tsuji, T., Abbasi, AR., Khalaj, M., Ikeda, M., Miyadera, K., Ogawa, H., Kunieda, T. :
An insertion mutation of the bovine Fii gene is responsible for factor XI deficiency in Japanese black cattle. Mamm Genome 16:383-9, 2005. Pubmed reference: 16104386.
2004 Marron, BM., Robinson, JL., Gentry, PA., Beever, JE. :
Identification of a mutation associated with factor XI deficiency in Holstein cattle. Anim Genet 35:454-6, 2004. Pubmed reference: 15566468. DOI: 10.1111/j.1365-2052.2004.01202.x.
2000 Haton, B.M., Robinson, J.L., Beever, J.E. :
Identification of the mutation responsible for factor XI deficiency in Holstein cattle Plant and Animal Genome (PAG) VIII :Abstract P375, 2000.
1998 Robinson, J.L., Beever, J.E., Deleeuw, N., Lewin, H.A., Gillings, M., Dennis, J.A., Healy, P.J. :
Characterization of the 3' end of the gene for bovine factor XI Journal of Dairy Science 81:539-543, 1998. Pubmed reference: 9532508. DOI: 10.3168/jds.S0022-0302(98)75605-X.
1997 Coomber, B.L., Galligan, C.L., Gentry, P.A. :
Comparison of in vitro function of neutrophils from cattle deficient in plasma factor XI activity and from normal animals Veterinary Immunology & Immunopathology 58:121-131, 1997.
1995 Liptrap, R.M., Gentry, P.A., Ross, M.L., Cummings, E. :
Preliminary findings of altered follicular activity in Holstein cows with coagulation factor XI deficiency Veterinary Research Communications 19:463-471, 1995. Pubmed reference: 8619284.
1994 Gentry, P.A., Ross, M.L. :
Coagulation factor XI deficiency in Holstein cattle: Expression and distribution of factor XI activity Canadian Journal of Veterinary Research - Revue Canadienne de Recherche Veterinaire 58:242-247, 1994. Pubmed reference: 7889454.
1993 Healy, P.J., Dennis, J.A. :
Inherited Enzyme Deficiencies in Livestock Veterinary Clinics of North America - Food Animal Practice 9:55-63, 1993. Pubmed reference: 8457930.
1990 Hase, S., Nishimura, H., Kawabata, S.I., Iwanaga, S., Ikenaka, T. :
The Structure of (Xylose)2Glucose-O-Serine 53 Found in the 1st Epidermal Growth Factor-Like Domain of Bovine Blood Clotting Factor-IX Journal of Biological Chemistry 265:1858-1861, 1990. Pubmed reference: 2105311.
1988 Brush, P.J., Gentry, P.A. :
Bovine factor XI deficiency: relationship between heterozygotes in Canada and Britain Veterinary record 122:134 only, 1988. Pubmed reference: 3369063.
1987 Brush, P.J., Anderson, P.H., Gunning, R.F. :
Identification of factor XI deficiency in Holstein-Friesian cattle in Britain Veterinary Record 121:14-17, 1987. Pubmed reference: 3629878.
Gentry, P.A., Brush, P.J. :
Factor XI deficiency in Canadian Holsteins Canadian Veterinary Journal 28:110 only, 1987.
1986 Gentry, P.A., Ross, M.L. :
Failure of routine coagulation screening tests to detect heterozygous state of bovine Factor XI deficiency Veterinary Clinical Pathology 15:12-16, 1986. Pubmed reference: 15221705.
1980 Gentry, P.A., Black, W.D. :
Prevalence and inheritance of factor XI (plasma thromboplastin antecedent) deficiency in cattle Journal of Dairy Science 63:616-620, 1980. Pubmed reference: 7381085. DOI: 10.3168/jds.S0022-0302(80)82980-8.
1975 Gentry, P.A., Crane, S., Lotz, F. :
Factor XI (plasma thromboplastin antecedent) deficiency in cattle. Can Vet J 16:160-3, 1975. Pubmed reference: 1131792.
1969 Kociba, G.J., Ratnoff, O.D., Loeb, W.F., Wall, R.L., Heider, L.E. :
Bovine plasma thromboplastin antecedent (Factor XI) deficiency. J Lab Clin Med 74:37-41, 1969. Pubmed reference: 5256172.

Edit History


  • Created by Mohammad Shariflou on 14 Nov 2006
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 03 Oct 2012
  • Changed by Frank Nicholas on 05 Jun 2013
  • Changed by Frank Nicholas on 21 Jul 2017
  • Changed by Frank Nicholas on 28 Jan 2018