Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
Identifieur interne : 001E54 ( Istex/Checkpoint ); précédent : 001E53; suivant : 001E55Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
Auteurs : Carl C. T. Ton [États-Unis] ; Harri Hirvonen [États-Unis] ; Hiroshi Miwa [États-Unis] ; Michael M. Weil [États-Unis] ; Paula Monaghan ; Tim Jordan ; Veronica Van Heyningen ; Nicholas D. Hastie ; Hanne Meijers-Heijboer ; Matthias Drechsler ; Brigitte Royer-Pokora ; Francis Collins [États-Unis] ; Anand Swaroop [États-Unis] ; Louise C. Strong [États-Unis] ; Grady F. Saunders [États-Unis]Source :
- Cell [ 0092-8674 ] ; 1991.
English descriptors
- Teeft :
- Acad, Amino, Amino acid, Amino acid sequence, Amino acids, Aniridia, Aniridia gene, Aniridia gene figure, Bidirectional jumps, Blot, Bottom line, Breakpoint, Bsshll fragments, Candidate gene, Cdna, Cdna clone ptp1, Cdna clones, Cdna libraries, Cdna library, Cell genet, Cell line, Choroid plexus, Chromosomal aberrations, Chromosome, Clone, Coding region, Consensus sequence, Control genes, Cortical plate, Cosmid contig, Dark field illumination, Deletion, Developmental genes, Dextran sulfate, Distal deletion breakpoint, Drosophila, Ecorl, Embryo, Excretory system, Expression pattern, Fetal calf serum, Fragment, Gene, Genet, Genitourinary abnormalities, Genomic, Genomic probe, Gessler, Helix, Hindlll fragment, Homeobox, Homeobox genes, Homeodomain, Homeodomain proteins, Human bands, Human cdna clones, Human cdnas, Human chromosome, Human leukocyte, Hybrid, Hybridization, Hybridized, Inadequate gene dosage, Interstitial deletion, J5al, Junction region, Locus, Mental retardation, Molecular analysis, Molecular biology, Mouse cdna, Mouse cdnas, Mouse model, Murine, Murine cdna, Murine gene, Murine homolog, Mutation, Nasal placodes, Natl, Neuroretina, Normal karyotype, Northern blot, Notl, Notl fragment, Notl junction, Notl restriction fragment, Notl restriction fragments, Notl sites, Nucleotide, Nucleotide position, Nylon membranes, Nzcym plates, Olfactory bulbs, Optic, Other homeobox genes, Other patients, Partial absence, Patient sat0, Pax7, Pfge analysis, Phage, Pigment retina, Point mutations, Polypeptide, Polypeptide product, Polypeptide sequence, Positional effects, Positive clones, Primary function, Primary screens, Probe, Proc, Proximal terminus, Ptp1, Regulatory function, Restriction enzymes, Restriction fragments, Restriction mapping, Retina, Room temperature, Sat0, Sato, Schematic diagram, Sfil, Silver grains, Simo, Simo cell line, Simo translocation, Simola, Size markers, Smallest region, Somatic cell, Southern blot, Southern blot analysis, Spatial expression, Specific promoters, Specific properties, Strongest signal, Structural organization, Subcloned, Surface ectoderm, Telomeric, Telomeric direction, Temporal lobe, Total brain, Transcript expression, Transcription, Transcription factor, Translocation, Translocation breakpoint, Tumor association, Tumor patient, Unpublished data, Wagr, Wagr region, Wilms.
Abstract
Abstract: Based on the map location of the aniridia (AN) locus in human chromosomal band 11p13, we have cloned a candidate AN cDNA (D11S812E) that is completely or partially deleted in two patients with AN. The <70 kb smallest region of overlap between the two deletions encompasses the 3′ coding region of the cDNA. This cDNA, which spans over 50 kb of genomic DNA, detects a 2.7 kb message specifically within all tissues affected in AN. The predicted polypeptide product possesses a paired domain, a homeodomain, and a serine/threonine-rich carboxy-terminal domain, structural motifs characteristic of certain transcription factors. The concordance between expression and pathology, map location, structure, and predicted function argues that the cDNA corresponds to the AN gene.
Url:
DOI: 10.1016/0092-8674(91)90284-6
Affiliations:
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Links to Exploration step
ISTEX:72CEE750C26683EF0201E26E9E9010E3A8D30BECLe document en format XML
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<profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Acad</term>
<term>Amino</term>
<term>Amino acid</term>
<term>Amino acid sequence</term>
<term>Amino acids</term>
<term>Aniridia</term>
<term>Aniridia gene</term>
<term>Aniridia gene figure</term>
<term>Bidirectional jumps</term>
<term>Blot</term>
<term>Bottom line</term>
<term>Breakpoint</term>
<term>Bsshll fragments</term>
<term>Candidate gene</term>
<term>Cdna</term>
<term>Cdna clone ptp1</term>
<term>Cdna clones</term>
<term>Cdna libraries</term>
<term>Cdna library</term>
<term>Cell genet</term>
<term>Cell line</term>
<term>Choroid plexus</term>
<term>Chromosomal aberrations</term>
<term>Chromosome</term>
<term>Clone</term>
<term>Coding region</term>
<term>Consensus sequence</term>
<term>Control genes</term>
<term>Cortical plate</term>
<term>Cosmid contig</term>
<term>Dark field illumination</term>
<term>Deletion</term>
<term>Developmental genes</term>
<term>Dextran sulfate</term>
<term>Distal deletion breakpoint</term>
<term>Drosophila</term>
<term>Ecorl</term>
<term>Embryo</term>
<term>Excretory system</term>
<term>Expression pattern</term>
<term>Fetal calf serum</term>
<term>Fragment</term>
<term>Gene</term>
<term>Genet</term>
<term>Genitourinary abnormalities</term>
<term>Genomic</term>
<term>Genomic probe</term>
<term>Gessler</term>
<term>Helix</term>
<term>Hindlll fragment</term>
<term>Homeobox</term>
<term>Homeobox genes</term>
<term>Homeodomain</term>
<term>Homeodomain proteins</term>
<term>Human bands</term>
<term>Human cdna clones</term>
<term>Human cdnas</term>
<term>Human chromosome</term>
<term>Human leukocyte</term>
<term>Hybrid</term>
<term>Hybridization</term>
<term>Hybridized</term>
<term>Inadequate gene dosage</term>
<term>Interstitial deletion</term>
<term>J5al</term>
<term>Junction region</term>
<term>Locus</term>
<term>Mental retardation</term>
<term>Molecular analysis</term>
<term>Molecular biology</term>
<term>Mouse cdna</term>
<term>Mouse cdnas</term>
<term>Mouse model</term>
<term>Murine</term>
<term>Murine cdna</term>
<term>Murine gene</term>
<term>Murine homolog</term>
<term>Mutation</term>
<term>Nasal placodes</term>
<term>Natl</term>
<term>Neuroretina</term>
<term>Normal karyotype</term>
<term>Northern blot</term>
<term>Notl</term>
<term>Notl fragment</term>
<term>Notl junction</term>
<term>Notl restriction fragment</term>
<term>Notl restriction fragments</term>
<term>Notl sites</term>
<term>Nucleotide</term>
<term>Nucleotide position</term>
<term>Nylon membranes</term>
<term>Nzcym plates</term>
<term>Olfactory bulbs</term>
<term>Optic</term>
<term>Other homeobox genes</term>
<term>Other patients</term>
<term>Partial absence</term>
<term>Patient sat0</term>
<term>Pax7</term>
<term>Pfge analysis</term>
<term>Phage</term>
<term>Pigment retina</term>
<term>Point mutations</term>
<term>Polypeptide</term>
<term>Polypeptide product</term>
<term>Polypeptide sequence</term>
<term>Positional effects</term>
<term>Positive clones</term>
<term>Primary function</term>
<term>Primary screens</term>
<term>Probe</term>
<term>Proc</term>
<term>Proximal terminus</term>
<term>Ptp1</term>
<term>Regulatory function</term>
<term>Restriction enzymes</term>
<term>Restriction fragments</term>
<term>Restriction mapping</term>
<term>Retina</term>
<term>Room temperature</term>
<term>Sat0</term>
<term>Sato</term>
<term>Schematic diagram</term>
<term>Sfil</term>
<term>Silver grains</term>
<term>Simo</term>
<term>Simo cell line</term>
<term>Simo translocation</term>
<term>Simola</term>
<term>Size markers</term>
<term>Smallest region</term>
<term>Somatic cell</term>
<term>Southern blot</term>
<term>Southern blot analysis</term>
<term>Spatial expression</term>
<term>Specific promoters</term>
<term>Specific properties</term>
<term>Strongest signal</term>
<term>Structural organization</term>
<term>Subcloned</term>
<term>Surface ectoderm</term>
<term>Telomeric</term>
<term>Telomeric direction</term>
<term>Temporal lobe</term>
<term>Total brain</term>
<term>Transcript expression</term>
<term>Transcription</term>
<term>Transcription factor</term>
<term>Translocation</term>
<term>Translocation breakpoint</term>
<term>Tumor association</term>
<term>Tumor patient</term>
<term>Unpublished data</term>
<term>Wagr</term>
<term>Wagr region</term>
<term>Wilms</term>
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<front><div type="abstract" xml:lang="en">Abstract: Based on the map location of the aniridia (AN) locus in human chromosomal band 11p13, we have cloned a candidate AN cDNA (D11S812E) that is completely or partially deleted in two patients with AN. The <70 kb smallest region of overlap between the two deletions encompasses the 3′ coding region of the cDNA. This cDNA, which spans over 50 kb of genomic DNA, detects a 2.7 kb message specifically within all tissues affected in AN. The predicted polypeptide product possesses a paired domain, a homeodomain, and a serine/threonine-rich carboxy-terminal domain, structural motifs characteristic of certain transcription factors. The concordance between expression and pathology, map location, structure, and predicted function argues that the cDNA corresponds to the AN gene.</div>
</front>
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<li>Texas</li>
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<tree><noCountry><name sortKey="Drechsler, Matthias" sort="Drechsler, Matthias" uniqKey="Drechsler M" first="Matthias" last="Drechsler">Matthias Drechsler</name>
<name sortKey="Hastie, Nicholas D" sort="Hastie, Nicholas D" uniqKey="Hastie N" first="Nicholas D." last="Hastie">Nicholas D. Hastie</name>
<name sortKey="Jordan, Tim" sort="Jordan, Tim" uniqKey="Jordan T" first="Tim" last="Jordan">Tim Jordan</name>
<name sortKey="Meijers Heijboer, Hanne" sort="Meijers Heijboer, Hanne" uniqKey="Meijers Heijboer H" first="Hanne" last="Meijers-Heijboer">Hanne Meijers-Heijboer</name>
<name sortKey="Monaghan, Paula" sort="Monaghan, Paula" uniqKey="Monaghan P" first="Paula" last="Monaghan">Paula Monaghan</name>
<name sortKey="Royer Pokora, Brigitte" sort="Royer Pokora, Brigitte" uniqKey="Royer Pokora B" first="Brigitte" last="Royer-Pokora">Brigitte Royer-Pokora</name>
<name sortKey="Van Heyningen, Veronica" sort="Van Heyningen, Veronica" uniqKey="Van Heyningen V" first="Veronica" last="Van Heyningen">Veronica Van Heyningen</name>
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<country name="États-Unis"><region name="Texas"><name sortKey="Ton, Carl C T" sort="Ton, Carl C T" uniqKey="Ton C" first="Carl C. T." last="Ton">Carl C. T. Ton</name>
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<name sortKey="Collins, Francis" sort="Collins, Francis" uniqKey="Collins F" first="Francis" last="Collins">Francis Collins</name>
<name sortKey="Hirvonen, Harri" sort="Hirvonen, Harri" uniqKey="Hirvonen H" first="Harri" last="Hirvonen">Harri Hirvonen</name>
<name sortKey="Miwa, Hiroshi" sort="Miwa, Hiroshi" uniqKey="Miwa H" first="Hiroshi" last="Miwa">Hiroshi Miwa</name>
<name sortKey="Saunders, Grady F" sort="Saunders, Grady F" uniqKey="Saunders G" first="Grady F." last="Saunders">Grady F. Saunders</name>
<name sortKey="Strong, Louise C" sort="Strong, Louise C" uniqKey="Strong L" first="Louise C." last="Strong">Louise C. Strong</name>
<name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name>
<name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name>
<name sortKey="Weil, Michael M" sort="Weil, Michael M" uniqKey="Weil M" first="Michael M." last="Weil">Michael M. Weil</name>
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