ArticleMammalian genome : official journal of the International Mammalian Genome Society2003
A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 38 citations in OpenAlex.
- A naturally occurring canine model of syndromic congenital microphthalmia.G3 (Bethesda, Md.) · 2024Article
- One Health: Animal Models of Heritable Human Bleeding Diseases.Animals : an open access journal from MDPI · 2022Review
- Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update.Human genetics · 2021Article
- A Single Base Insertion inGenes · 2021Article
- Long-read assembly of a Great Dane genome highlights the contribution of GC-rich sequence and mobile elements to canine genomes.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Genetics of equine bleeding disorders.Equine veterinary journal · 2021Review
- A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.BMC genetics · 2020Article
- Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of theHaematologica · 2019Article
- Genetic Pathways of Aging and Their Relevance in the Dog as a Natural Model of Human Aging.Frontiers in genetics · 2019Review
- An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs.PloS one · 2017Article
- The Influence of LINE-1 and SINE Retrotransposons on Mammalian Genomes.Microbiology spectrum · 2015Review
- Copy number variation in the domestic dog.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Review
- Protein replacement therapy and gene transfer in canine models of hemophilia A, hemophilia B, von willebrand disease, and factor VII deficiency.ILAR journal · 2009Review
- Understanding hereditary diseases using the dog and human as companion model systems.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Review
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- The genomic distribution of L1 elements: the role of insertion bias and natural selection.Journal of biomedicine & biotechnology · 2006Article
- A deletion causing spontaneous fracture identified from a candidate region of mouse Chromosome 14.Mammalian genome : official journal of the International Mammalian Genome Society · 2005Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We undertook the biochemical and molecular characterization of hemophilia in a large pedigree of German wirehaired pointers. Males affected with hemophilia B had approximately 5% normal Factor IX coagulant activity and a proportional reduction of Factor IX protein concentration, indicative of a mild hemophilia B phenotype. Using Southern blot analyses and PCR amplification of genomic DNA, we discovered a large, 1.5-kb insertion in intron 5 of the Factor IX gene of an affected male. The insert consists of a 5' truncated canine Line-1 followed by an approximately 200-bp 3' poly (A) tract, flanked by a 15-bp direct repeat. The insert can be traced through at least five generations and segregates with the hemophilia B phenotype in this breed. This is the first description of a Factor IX mutation associated with mild hemophilia B in a non-human species and provides evidence for a recent Line-1 insertion event in the canine genome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.