BIOMAT Database Logo BIOMAT Database Logo

Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34. 1995

M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
MGC Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.

Tuberous sclerosis (TSC) is a heterogeneous multisystem disorder with loci on 9q34 (TSC1) and 16p13.3 (TSC2). The TSC2 gene has recently been isolated, while the TSC1 gene has been mapped to a 5-cM region between the markers D9S149 and D9S114. In our effort to localise and clone TSC1, we have obtained three adjacent cosmid contigs that cover the core of the candidate region. The three contigs comprise approximately 600 kb and include 80 cosmids, 2 P1 clones, 1 YAC, 5 anonymous markers and 4 sequence-tagged sites. The ABO blood group locus, the Surfeit gene cluster, the dopamine beta-hydroxylase gene (DBH) and VAV2, a homologue of the vav oncogene, have all been mapped within the contigs. Exon trapping and mutation screening experiments, aimed at identifying the TSC1 gene, are currently in progress.

UI MeSH Term Description Entries
D008565 Membrane Proteins Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors. Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D011506 Proteins Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. Gene Products, Protein,Gene Proteins,Protein,Protein Gene Products,Proteins, Gene
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002899 Chromosomes, Human, Pair 9 A specific pair of GROUP C CHROMSOMES of the human chromosome classification. Chromosome 9
D003360 Cosmids Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles. Cosmid
D004299 Dopamine beta-Hydroxylase Dopamine beta-Monooxygenase,Dopamine beta Hydroxylase,Dopamine beta Monooxygenase,beta-Hydroxylase, Dopamine,beta-Monooxygenase, Dopamine
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA

Related Publications

M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
Cosmid contigs spanning 9q34 including the candidate region for TSC1.
January 1995, European journal of human genetics : EJHG,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34.
May 1996, Genomics,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
Physical analysis of the tuberous sclerosis region in 9q34.
January 1995, Genomics,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
A high frequency polymorphism in the candidate region for tuberous sclerosis 1 (TSC1) at 9q34.
May 1996, Annals of human genetics,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
Regional localization of 64 cosmid contigs, including 18 genes and 14 markers, to intervals on human chromosome 9q34.
September 1995, Genomics,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.
October 1994, Human molecular genetics,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
A 1.7-megabase sequence-ready cosmid contig covering the TSC1 candidate region in 9q34.
May 1997, Genomics,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31.
March 1997, Genomics,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
Assembly and analysis of cosmid contigs in the CEA-gene family region of human chromosome 19.
April 1992, Nucleic acids research,
M van Slegtenhorst, and B Janssen, and M Nellist, and S Ramlakhan, and C Hermans, and A Hesseling, and A van den Ouweland, and D Kwiatkowski, and B Eussen, and J Sampson
Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4.
July 1993, Human molecular genetics,
Copied contents to your clipboard!