Cosmid Contigs from the
Tuberous Sclerosis Candidate
Region on Chromosome 9q34

M, van Slegtenhorst; Janssen, Bart; Nellist, Mark; Ramlakhan, S.; Hermans, C. J.; A, Hesseling; A, van den Ouweland; Kwiatkowski, David J.; Eussen, Bert; Sampson, Julian R.

doi:10.1159/000472280

Cited by 9 publications

(3 citation statements)

References 31 publications

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“…Many microsatellite markers from this region were then identified and a cosmid, P1 artificial chromosome and bacterial artificial chromosome contig assembled Povey et al 1994;Van Slegtenhorst et al 1995;Au et al 1996;Hornigold et al 1997). Two putative recombinants in unaffected individuals provisionally narrowed the candidate region to 900 kb between the markers D9S2127 and DBH.…”

Section: Mapping and Identification Of Tsc1mentioning

confidence: 99%

Molecular genetic advances in tuberous sclerosis

et al. 2000

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Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.

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Section: Mapping and Identification Of Tsc1mentioning

confidence: 99%

Molecular genetic advances in tuberous sclerosis

et al. 2000

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“…In future, this approach may contribute to a solution of the controversy concerning the validity of the observed recombination events. Recent efforts include the construction of cosmid contigs [24,25], the search for mutations in candidate genes [26] and exon-trapping experiments [27] and have been aimed both at the proximal and distal parts of the consensus region. So far, the TSC1 gene has escaped identification.…”

Section: Genetics and Linkagementioning

confidence: 99%

Tuberous Sclerosis: Between Genetic and Physical Analysis

Halley¹

1996

Acta genet. med. gemellol.: twin res.

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Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder with extensive clinical variability. Present estimates of the prevalence of TSC suggest that it may exceed 1:6,000. New mutations are frequent, as about 2/3 of all cases are apparently sporadic. Locus heterogeneity has been established, with one gene on chromosome 9q34 (TSC1) and the other on chromosome 16p13.3 (TSC2). The majority of TSC2 mutations are probably subtle alterations. In some cases, somatic and germline mosaicism might be explanations for intrafamilial phenotype variation and apparent non penetrance. A role of the predicted protein product tuberin in growth suppression would be in agreement with allelic losses observed in tumors of TSC patients. Studies on tuberin using antibodies raised against various parts of the protein can be expected to provide insight into its normal and impaired function.

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“…One of the breakpoints occurred in 9q34.3, which harbors the TSC1 locus. The TSC1 region has been narrowed to 3 cM, and cosmid contigs covering a part of the region have been constructed (Nahmias et al, 1995;van Slegtenhorst et al, 1995). Based on FISH with two cosmids flanking the TSC1 region and one telomeric cosmid (Notch1), we showed that the breakpoint is telomeric to the TSC1 locus.…”

mentioning

confidence: 99%