European Gene Mapping Project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families

Cox, S A; Attwood, J.; Bryant, Stephen P.; Bains, Rasneer S.; Povey, Sue; Rebello, George; Kapsetaki, M.; Moschonas, Nicholas Κ.; Grzeschik, Karl‐Heinz; Otto, Mandy; Dixon, Missy; Sudworth, H E; Kooy, R. Frank; Wright, Alan F.; Teague, Peter; Terrenato, L.; Vergnaud, Gilles; Monfouilloux, Sylvaine; Weissenbach, Jean; Alibert, Olivier; Dib, Colette; Fauré, Sabine; Bakker, E; Pearson, Nathaniel M.; Spurr, Nigel K.

doi:10.1111/j.1469-1809.1996.tb01614.x

Cited by 8 publications

(6 citation statements)

References 57 publications

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“…2), detects a single signal on 6qter by FISH analysis. Three highly polymorphic monolocus minisatellites, CEB111, CEB113, and CEB114 (Cox et al, 1996), are present in cosmid 6C4, which also contains the proximal end of the YAC insert. Comparison between the cosmid restriction maps indicates the position of the translocation breakpoint.…”

Section: Structural Boundaries Defined By the Four Major Sites And Jumentioning

confidence: 99%

Recent Human-Specific Spreading of a Subtelomeric Domain

Monfouilloux¹,

Avet-Loiseau

Amarger³

et al. 1998

Genomics

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The recent spreading of a subtelomeric region at nine different human chromosome ends was characterized by a combination of segregation analyses, physical mapping, junction cloning, and FISH investigations. The events occurred very recently in human genome evolution as demonstrated by sequence analysis of different alleles and the single location of the ancestral site at chromosome 17qter in chimpanzee and orangutan. The domain successfully colonized most 1p, 5q, and 6q chromosome ends and is also present at a significant frequency of 6p, 7p, 8p, 11p, 15q, and 19p ends. On 6qter, the transposed domain is immediately distal to the highly conserved, single-copy gene PDCD2.

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Section: Structural Boundaries Defined By the Four Major Sites And Jumentioning

confidence: 99%

Recent Human-Specific Spreading of a Subtelomeric Domain

Monfouilloux¹,

Avet-Loiseau

Amarger³

et al. 1998

Genomics

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“…In addition, four markers containing short tracks of (CA)n repeats and flanking the LCA1 locus were studied for linkage desequilibrium in the three LCA families (AFMb346yc5, AFM090xe5, AFMa183ye1 and AFMa223yb1; at the D17S1854, D17S1881, D17S1796 locus and D17S1805 loci, respectively) [Généthon Linkage Map, Cox et al, 1996].…”

Section: Linkage Desequilibrium Analysis In the Three Finnish Lca Fammentioning

confidence: 99%

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

et al. 2002

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Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies. It is a genetically heterogeneous condition as six disease-causing genes have been hitherto identified. Among them, RETGC1 (GUCY2D), is more frequently implicated in our series of LCA patients. Interestingly, 70 % of the families with RETGC1 mutations are originating from Mediterranean countries, the remaining families (30%) being originating from various countries across the world. Here, we report, the identification of the same homozygous RETGC1 nonsense mutation in three unrelated and non-consanguineous LCA families of Finnish origin, suggesting a founder effect. Interestingly, no linkage desequilibrium was found using polymorphic markers flanking the RETGC1 gene, supporting the view that the mutation is very ancient. Haplotype studies and Bayesian calculation point the founder mutation to 150 generations (95% credible interval 80-240 generations), i.e., 3000 years ago.

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“…Microsatellite typings on the remaining 32 CEPH families were done to increase the mapping resolution. In order to reduce typing effort, only key recombinant subjects were typed, together with the two parents and appropriate grandparents as outlined in Cox et al 20. All genotyping data generated in the course of this project can be recovered from CEPH at http://www.cephb.fr/.…”

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confidence: 99%