Genomic structure of the gene for the human p1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease

European Journal of Human Genetics

Volumn 8, Issue 3, 2000, Pages 163-166

  Hofmann, Yvonne ^f   Becker, Jutta ^f   Wright, Felicia ^a   Avner, Ellis D ^b   Mrug, Michal ^c   Guay Woodford, Lisa M ^c   Somlo, Stefan ^d   Zerres, Klaus ^e   Germino, Gregory G ^a   Onuchic, Luiz F ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

^c University of Alabama at Birmingham   (United States)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e RWTH AACHEN UNIVERSITY   (Germany)

^f NONE

Author keywords

ARPKD; MCM3 gene; P1 protein; PKHD1; Polymorphic markers

Indexed keywords

COMPLEMENTARY DNA; DNA BINDING PROTEIN; P1 PROTEIN; REPLICATION LICENSING FACTOR BETA SUBUNIT; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 6P; DNA FLANKING REGION; DNA REPLICATION; GENE MUTATION; GENE STRUCTURE; GENETIC MARKER; GENETIC RECOMBINATION; KIDNEY POLYCYSTIC DISEASE; LIVER DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CELL CYCLE PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; DNA-BINDING PROTEINS; EXONS; GENOME, HUMAN; HUMANS; INTRONS; NUCLEAR PROTEINS; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTORS;

EID: 18344413259     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200426     Document Type: Article

References (11)

1. Zerres K, Muecher G, Bachner L et al: Mapping of the gene for autosomal recessive polycystic disease (ARPKD) to chromosome 6p21-cen. Nat Genet 1998; 7: 429-432.
2. Guay-Woodford LM, Galliani CA, Musulman-Mroczek E, Spear GS, Guillot AP, Bernstein J: Diffuse renal cystic disease in children: morphologic and genetic correlations. Pediatr Nephrol 1998; 12: 173-182.
3. Guay-Woodford LM: Autosomal recessive disease: clinical and genetic profiles. In: Torres V, Watson M, Polycystic Kidney Disease. Oxford University Press: Oxford, 1996; 237-267.
4. Zerres K, Muecher G, Becker J et al: Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 1998; 76: 137-144.
5. Muecher G, Wirth B, Zerres K: Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12. Am J Hum Genet 1994; 55: 1281-1284.
6. Muecher G, Becker J, Knapp M et al: Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2B and GSTA1 at 6p21.1-p12. Genomics 1998; 48: 40-45.
7. Thoemmes P, Fett R, Schray B et al: Properties of the nuclear P1 protein, a mammalian homologue of the yeast Mcm3 replication protein. Nucleic Acids Res 1992; 20: 1069-1074.
8. Lens X, Onuchic L, Wu G et al: An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics 1997; 41: 463-466.
9. Park J, Dexit M, Onuchic L et al: A 1 Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. Genomics 1999; 57: 249-255.
10. Kubota Y, Mimura S, Nishimoto S, Takisawa H, Nojima H: Identification of the yeast MCM3-related protein as a component of Xenopus DNA replication licensing factor. Cell 1995; 81: 601-609.
11. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.