title: A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q.
abstract: A gene (NPH1) responsible for approximately 90% of the purely renal form of familial juvenile nephronophthisis, a progressive tubulo-interstitial kidney disorder, maps to human chromosome 2. We report the construction of a YAC-based contig spanning the critical NPH1 region and the flanking genetic markers. This physical map was integrated with a refined genetic map that restricted the NPH1 interval to about 2 cM; this interval corresponds to a maximum physical distance of 3.5 Mb. The entire contig covers 9 cM between the loci D2S135 and D2S121. The maximum physical distance between these two markers is approximately 11.3 Mb. Forty-five sequence-tagged sites, including six genes, have been located within this contig. PAX8, a member of the human paired box gene family, that is expressed in the developing kidney, was assigned outside the restricted NPH1 critical region and cannot therefore be regarded as a candidate gene. This set of overlapping clones represents a useful resource for further targeted development of genetic markers and for the characterization of candidate genes responsible for juvenile nephronophthisis.
authors.affiliation: INSERM U 423, Hôpital Neck-Enfant Malades, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Konrad
authors.forename: S
authors.initials: S
authors.lastname: Saunier
authors.forename: F
authors.initials: F
authors.lastname: Silbermann
authors.forename: F
authors.initials: F
authors.lastname: Benessy
authors.forename: D
authors.initials: D
authors.lastname: Le Paslier
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: M
authors.initials: M
authors.lastname: Broyer
authors.forename: M C
authors.initials: MC
authors.lastname: Gubler
authors.forename: C
authors.initials: C
authors.lastname: Antignac
mesh_terms: D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D017931:DNA Primers; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000235:genetics*; D007679:Kidney Medulla; D008969:Molecular Sequence Data
chemical_list: D017931:DNA Primers