Report of the Second International Workshop on Human Chromosome 9 Mapping 1993

Kwiatkowski, David J.; Armour, John A.L.; Bale, Allen E.; Fountain, Jane W.; Goudie, David; Haines, Jonathan L.; Knowles, Margaret A.; Pilz, Alison; Slaugenhaupt, Susan A.; Povey, Sue

doi:10.1159/000133566

Cited by 42 publications

(12 citation statements)

References 14 publications

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“…During 1992-1993, linkage studies identified an approximately 1.5-Mb region of chromosome 16p as probably containing the TSC2 gene (Kandt et al 1992;Kwiatkowski et al 1993). At the same time, a family with both TSC and autosomal dominant polycystic kidney disease (PKD) was found to segregate a translocation between chromosomes 16p and 22q.…”

Section: Positional Cloning Of Tsc2mentioning

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: Positional Cloning Of Tsc2mentioning

confidence: 99%

Molecular genetic advances in tuberous sclerosis

et al. 2000

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“…Case 96 showed LOH at D9S161 and D9S157, but it was not informative at either D9S171 or at IFNA Figure 4 Patterns of chromosome 9p21-23 loss in SCC of larynx. Markers are listed in order according to the sex average genetic map (Kwiatowski et al, 1993). The localization of p16 MTS-1/CDK4I is indicated with a vertical arrow (;).…”

Section: Hypermethylation Of the P16 Mts1/cdk4i Genementioning

confidence: 99%

p16MTS1/CDK4I mutations and concomitant loss of heterozygosity at 9p21-23 are frequent events in squamous cell carcinoma of the larynx

Jares

Fernández

Nadal³

et al. 1997

Oncogene

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We have examined the presence of p16 MTS1/CDK4I gene deletions, mutations and methylation status, and 9p21-23 deletions in a series of 46 squamous cell carcinomas of the larynx and paired normal mucosa previously characterized for cyclin D1 gene ampli®cation and overexpression. pRb expression was also examined by immunohistochemistry. p16 MTS1/CDK4I mutations were found in 10/46 (22%) carcinomas and hypermethylation in 2/31 (7%). Loss of heterozygosity at 9p21-23 was found in 24 out of 42 (57%) carcinomas examined. All p16 MTS1/CDK4I mutated cases and the two hypermethylated carcinomas showed 9p21-23 loss of heterozygosity. The loss of heterozygosity correlated with advanced local invasion (P=0.0045), lymph node metastases (P=0.0326), stage IV of the tumors (P=0.0058), and existence of cyclin D1 ampli®cation/overexpression (P<0.03). Only one out of 37 carcinomas was negative for pRb expression. No alterations in p16 gene or 9p21-23 loss of heterozygosity were detected in this case. These ®ndings indicate that p16 MTS1/CDK4I is frequently inactivated by gene mutation, hypermethylation, and allelic deletions in a signi®cant subset of squamous cell carcinomas of larynx. Since 9p21-23 loss of heterozygosity was more frequently detected than p16 MTS1/CDK4I mutations, and mutated carcinomas invariably had loss of heterozygosity, allelic losses probably precede the p16 MTS1/CDK4I mutations. Their association with cyclin D1 deregulation in advanced carcinomas could indicate a possible cooperative e ect in the progression of these neoplasms.

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“…We typed markers at ABL (dinucleotide repeat), D9S64 (dinucleotide repeat), ABO and D9S10 (MCTI36) on chromosome 9. Inter-marker distances (2, 3 and 2 cM, respectively) were taken from the report of the Second Chromosome 9 Workshop (Kwiatkowski et al 1993). At ABO, the serological typing was utilized, unless molecular typing of the O-allele had been performed.…”

Section: Methodsmentioning

confidence: 99%

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

et al. 1994

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Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 cM between ABL and ABO. IntroductionTuberous sclerosis (TSC) is an autosomal dominant disorder, characterized by hamartomas that may affect numerous organ systems (for a review, see Gomez 1991). Positional cloning has been hampered by locus heterogeneity. Linkage was initially reported to markers on chromosome 9q34 (Fryer et al. 1987). However, these findings were subsequently disputed, until significance for locus heterogeneity was demonstrated and the existence of a chromosome-9-1inked locus (TSC!) was confirmed (Haines et al. 1991 a, b;Northrup et al. 1992).During the period 1990-1992, linkage studies in TSC were dominated by two main strategies: the development of more efficient methods for heterogeneity analysis and the search for other loci responsible for the disease. Sev-B. Janssen 9 M. van der Est 9 W. Deelen -S. Verhoef

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Report of the Second International Workshop on Human Chromosome 9 Mapping 1993

Cited by 42 publications

References 14 publications

Molecular genetic advances in tuberous sclerosis

Molecular genetic advances in tuberous sclerosis

p16MTS1/CDK4I mutations and concomitant loss of heterozygosity at 9p21-23 are frequent events in squamous cell carcinoma of the larynx

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

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