Allelic polymorphisms in the transcriptional regulatory region of human SEL1L

Mutation Research - Mutation Research Genomics

Volumn 458, Issue 3-4, 2001, Pages 71-76

  Cattaneo, Monica ^a   Zollo, Massimo ^b   Malferrari, Giulia ^a   Orlandi, Rosaria ^c   D'Angelo, Anna ^b   Menard, Sylvie ^c   Biunno, Ida ^a  

^a CNR   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c NATIONAL CANCER INSTITUTE   (Italy)

Author keywords

Functional polymorphism; Minimal promoter; SEL1L (a pancreas specific gene)

Indexed keywords

NOTCH RECEPTOR;

ALLELE; ANIMAL CELL; ARTICLE; CAENORHABDITIS ELEGANS; CONTROLLED STUDY; EPITHELIUM CELL; GENE ACTIVITY; GENE FUNCTION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LUNG CARCINOMA; MOUSE; NONHUMAN; PANCREAS CELL; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR DOWN REGULATION; TRANSCRIPTION REGULATION;

ALLELES; ANIMALS; BASE SEQUENCE; CELL LINE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HUMANS; LUNG NEOPLASMS; MICE; MOLECULAR SEQUENCE DATA; PANCREAS; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); PROTEINS; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 0034749577     PISSN: 13835726     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(01)00241-X     Document Type: Article

References (17)

1. SEL1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11
2. Isolation of a pancreas-specific gene located on human chromosome 14q31: Expression analysis in human pancreatic ductal carcinomas
3. SEL1L, the human homolog of C. elegans sel-1, refined physical mapping, gene structure and identification of polymorphic markers
4. Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31
5. LIN-12/NOTCH signalling: Lessons from worms and flies
6. Notch signalling
7. Exclusive development of T cell neoplasms in mice transplanted with bone marrow expressing activated Notch alleles
8. Neoplastic transformation by truncated alleles of human NOTCH/TAN1 and NOTCH2
9. The expression of SEL1L and TAN-1 in normal and neoplastic cells
10. Cloning and characterisation of Sel-1l, a murine homologue of the C. elegans sel-1 gene
11. Analysis of SEL1L promoter region
12. Complete cDNA sequence and genomic organisation of human pancreas-specific gene homologous to Caenorhabditis elegans sel-1
13. Single base pair substitutions within the HLA-DRA gene promoter separate the functions of the X1 and X2 boxes
14. Polymorphism in the human apolipoprotein A-1 gene promoter region: Association of the minor allele with decreased production rate in vivo and promoter activity in vitro
15. A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia
16. An A/G polymorphism in the promoter of mitochondrial aldehyde dehydrogenase (ALDH2): Effects of the sequence variant on transcription factor binding and promoter strength