Physical map of a 1.5 Mb region on 12p 11.2 harbouring a synpolydactyly associated chromosomal breakpoint

European Journal of Human Genetics

Volumn 8, Issue 8, 2000, Pages 561-570

  Debeer, Ph ^a,b   Schoenmakers, E F P M ^a,b   Thoelen, R ^a   Holvoet, M ^a   Kuittinen, T ^c   Fabry, G ^d   Fryns, J P ^a   Goodman, F R ^e   Van De Ven, W J M ^a,b  

^a CENTER FOR HUMAN GENETICS   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Chromosome 12p 11.2; DAD R; HOXD 13; HT2l; KRAG; Limb development; Physical mapping; Synpolydactyly

Indexed keywords

CONTIG;

AMINO ACID SEQUENCE; ARTICLE; BELGIUM; CASE REPORT; CHROMOSOME 12P; CHROMOSOME 22; CHROMOSOME BREAKAGE; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; COSMID; CPG ISLAND; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE TRANSLOCATION; HUMAN; LIMB DEVELOPMENT; LIMB MALFORMATION; MALE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; SOUTHERN BLOTTING; SYNOSTOSIS;

BASE SEQUENCE; BLOTTING, SOUTHERN; CARRIER PROTEINS; CHROMOSOME BREAKAGE; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 12; CONTIG MAPPING; DNA PRIMERS; ELECTROPHORESIS, GEL, PULSED-FIELD; FEMALE; GENETIC SCREENING; GENOMIC LIBRARY; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; POLYDACTYLY; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; SEQUENCE TAGGED SITES; SYNDACTYLY; SYNOSTOSIS; TRANSCRIPTION FACTORS;

EID: 0033902058     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200497     Document Type: Article

References (23)

1. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
2. Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families
3. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
4. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families
5. Cenani-Lenz syndrome in father and daughter
6. Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3'/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members
7. Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly
8. Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12
9. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents
10. Physical mapping of chromosome 12q breakpoints in lipoma, pleomorphic salivary gland adenoma, uterine leiomyoma, and myxoid liposarcoma
11. Separation of large DNA molecules by contour-clamped homogeneous electric fields
12. Characterization of two chromosome 12 cosmid libraries and development of STSs from cosmids mapped by FISH
13. Improved procedure for rapid isolation and sequencing of DNA insert termini in yeast artificial chromosomes
14. Basic local alignment search tool
15. A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA
16. Isolation of a somatic cell hybrid retaining the der(16)t(12;16)(q13;p11.2) from a myxoid liposarcoma cell line
17. Identification of the chromosome 12 translocation breakpoint region of a pleiotropic salivary gland adenoma with t(1;12)(p22;q15) as the sole cytogenetic abnormality
18. CpG islands as gene markers in the human genome
19. Molecular cloning of a human cDNA encoding a novel protein, DAD1, whose defect causes apoptotic cell death in hamster BHK21 cells
20. DAD1, the defender against apoptotic cell death, is a subunit of the mammalian oligosaccharyltransferase
21. Abnormalities of developmental cell death in Dad1-deficient mice
22. Coamplification in tumors of KRAS2, Type 2 Inositol 1,4,5, Triphosphate Receptor gene, and a novel gene, KRAG
23. Inositol trisphosphate and calcium signalling