Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion

Genetic Testing

Volumn 4, Issue 4, 2000, Pages 365-370

  Afzal, A R ^a   Florencio R N ^b   Taylor, R ^a   Patton, M A ^a   Saggar Malik, A ^a   Jeffery, S ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EXON; GENE DUPLICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; KIDNEY POLYCYSTIC DISEASE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS;

ALU ELEMENTS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GENE CONVERSION; GENE DUPLICATION; GENETIC SCREENING; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RNA SPLICING; TRPP CATION CHANNELS;

EID: 0034513760     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065700750065108     Document Type: Article

References (25)

1. Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene
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3. Recommendations for a nomenclature system for human gene mutations
4. A de novo pathological point mutation at the 21-hydroxylase locus: Implications for gene conversion in the human genome
5. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
6. Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence
7. Autosomal dominant polycystic kidney disease
8. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
9. Identification and characterisation of NF1-related loci on human chromosomes 22, 14 and 2
10. Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23
11. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
12. The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1
13. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
14. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
15. PKD1 interacts with PKD2 through a probable coiled-coil domain
16. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
17. A second genetic locus for autosomal dominant polycystic kidney disease
18. Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains
19. Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency
20. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
21. Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
22. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2
23. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection
24. Gene conversion is a likely cause of mutation in PKD1