Assignation of highly polymorphic markers on a canine purebred pedigree

Tiret, Laurent; Kessler, Jean-Louis; Bentolila, S; Fauré, Sabine; Bach, Jean-Marie; Weissenbach, Jean; Panthier, Jean‐Jacques

doi:10.1007/s003350010143

Cited by 6 publications

(4 citation statements)

References 14 publications

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“…The majority of canine STR markers described in the literature are based on dimeric and tetrameric repeats [24,25,26,27,28,29,30,31,32,33,34,35,36]. We selected tetrameric loci only (with the exception of the hexameric locus VWF.X), as dimeric STRs are known to produce stutter artefacts during PCR, which can make allele interpretation difficult [37].…”

Section: Resultsmentioning

confidence: 99%

A proposed nomenclature for 15 canine-specific polymorphic STR loci for forensic purposes

2004

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We performed a population study on 15 polymorphic STR loci (FH2010, FH2079, PEZ2, VWF.X, FH2054, FH2087Ub, FH2611, WILMS-TF, PEZ12, PEZ15, PEZ6, FH2087Ua, ZUBECA4, ZUBECA6, FH2132) on 131 randomly selected dogs. Alleles were identified and grouped according to their estimated fragment length using fixed allelic bins encompassing one base-pair. The allele assignment was confirmed by sequence analysis of homozygote and cloned heterozygote alleles. In order to develop a uniform repeat-based nomenclature, extensive sequence analysis was performed on a selection of alleles from each STR locus. The proposed nomenclature refers to the internationally recognised recommendations for human-specific STR loci in forensic applications. The 15 canine-specific STR loci were grouped into 3 classes (simple STRs, compound STRs and complex/hypervariable STRs) according to their complexity and variability within the repeat structure. Finally, we evaluated the precision of fragment size estimation on a capillary electrophoresis platform and demonstrated reproducibility of fragment length estimation for single base-pair intermediate alleles.

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Section: Resultsmentioning

confidence: 99%

A proposed nomenclature for 15 canine-specific polymorphic STR loci for forensic purposes

2004

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“…Genomic DNA was extracted from 3.5 ml EDTA-anticoagulated whole blood as previously described (Tiret et al 2000). The initial set of microsatellites used for homozygosity mapping was composed of 66 tetranucleotide repeats spanning all the characterised linkage groups (Mellersh et al 1997).…”

Section: Dna Extraction and Microsatellite Typingmentioning

confidence: 99%

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome�2

et al. 2003

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Myotubular/centronuclear myopathies are a nosological group of hereditary disorders characterised by severe architectural and metabolic remodelling of skeletal muscle fibres. In most myofibres, nuclei are found at an abnormal central position within a halo devoid of myofibrillar proteins. The X-linked form (myotubular myopathy) is the most prevalent and severe form in human, leading to death during early postnatal life. Maturation of fibres is not completed and fibres resemble myotubes. Linkage analysis in human has helped to identify MTM1 as the morbid gene. MTM1 encodes myotubularin, a dual protein phosphatase. In families in which myotubular myopathy segregates, detected mutations in MTM1 abolish the specific phosphatase activity targeting the second messenger phosphatidylinositol 3-phosphate. Autosomal forms (centronuclear) have a later onset and are often compatible with life. At birth, fibres are normally constituted but progressively follow remodelling with a secondary centralisation of nuclei. Their prevalence is low; hence, no linkage data can be performed and no molecular aetiology is known. In the Labrador Retriever, a spontaneous disorder strikingly mimics the clinical evolution of the human centronuclear myopathy. We have established a canine pedigree and show that the disorder segregates as an autosomal recessive trait in that pedigree. We have further mapped the dog locus to a region on chromosome 2 that is orthologous to human chromosome 10p. To date, no human MTM1 gene member has been mapped to this genetic region. This report thus describes the first spontaneous mammalian model of centronuclear myopathy and defines a new locus for this group of diseases.

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“…The 278 informative polymorphic markers analyzed in the initial whole genome scan included markers reported previously (Breen et al 2001;Jouquand et al 2000;Mellersh et al 2000;Tiret et al 2000;Werner et al 1997Werner et al , 1998Werner et al , 1999a or developed from a database of canine genomic sequence initially maintained by The Institute for Genomic Research (Kirkness et al 2003, see Electronic Supplementary Material). The markers were analyzed following either published conditions or with slight modifications thereof (Werner et al 1999a, c).…”

Section: Genotypingmentioning

confidence: 99%

The keeshond defect in cardiac conotruncal development is oligogenic1

et al. 2005

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Earlier studies in the keeshond breed of dogs established that isolated conotruncal defects (CTDs) are a group of genetically and embryologically related cardiac malformations, including sub-clinical defects of the conal septum, conal ventricular septal defects, tetralogy of Fallot, and persistent truncus arteriosus. The same spectrum occurs in some human families. In both species, inheritance of non-syndromic CTDs is usually complex and multifactorial inheritance has been assumed. Previous studies in the keeshond suggested that susceptibility to CTD is an autosomal recessive trait, with alleles at modifying loci affecting severity. Here we report results of a genome-wide scan for CTD linked loci in a keeshond x beagle F1 backcross pedigree in which 46 of 101 offspring had CTDs. Two-point linkage analysis identified regions of suggestive linkage on each of three chromosomes CFA2, CFA9, and CFA15. No single locus accounted for segregation of CTDs in the pedigree, ruling out a single autosomal susceptibility locus. Multipoint analysis with Genehunter resulted in a corrected LOD score of 3.7 at the locus on CFA9 and supported linkage to the loci on CFA2 and CFA15 (LOD scores of 2.71 and 3.03). Genehunter Twolocus analysis suggested that CTD-predisposing alleles of these three loci are necessary, at least in pairs, to produce CTD. The canine CTD-linked chromosome regions are orthologous to human regions HSA5q11-13, HSA5q31, HSA17q11-24, and HSA4q31. We excluded from the linked regions in the dog, a number of genes known to have a role in the etiology of CTDs and predict that continuing studies will identify CTD-predisposing genes not previously recognized.

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Assignation of highly polymorphic markers on a canine purebred pedigree

Cited by 6 publications

References 14 publications

A proposed nomenclature for 15 canine-specific polymorphic STR loci for forensic purposes

A proposed nomenclature for 15 canine-specific polymorphic STR loci for forensic purposes

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome�2

The keeshond defect in cardiac conotruncal development is oligogenic1

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