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Results: 4

1.
Figure  4

Figure 4. From: Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease.

Expression and conservation of PRKCSH. A, Tissue northern showing expression of PRKCSH in all tissues including liver and kidney. The transcript size is ∼2.5-3.0 kb with skeletal muscle showing evidence of a transcript >7.0 kb and cardiac muscle perhaps having a pair of transcripts in the 2.5-3.0 kb range. B, High degree of sequence conservation from C. elegans to humans. S. pombe and A. thaliana also have highly conserved PRKCSH homologs (not shown).

Airong Li, et al. Am J Hum Genet. 2003 March;72(3):691-703.
2.
Figure  3

Figure 3. From: Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease.

Mutations in PRKCSH in ADPLD. A, Sequence electropherograms showing mutant (affected) and wild-type (control) sequences. All template DNA was genomic except as indicated for the IVS16+1delGT mutation where both genomic (left) and RT-PCR (right) was analyzed. Six mutations are shown. B, Segregation of mutations in families 1 (IVS16+1delGT), 2 (C1237T), and 7 (C1266G), as analyzed by DHPLC. Only selected traces are shown, but the entire family was analyzed. Individual identifications correspond to previously published pedigrees (Reynolds et al. 2000) and figure 1.

Airong Li, et al. Am J Hum Genet. 2003 March;72(3):691-703.
3.
Figure  1

Figure 1. From: Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease.

Refinement of the genetic interval for ADPLD. A, Partial representation of the previously published family 1 (Reynolds et al. 2000), showing the disease-associated haplotype (black bar) and critical recombination events in newly recruited individuals (red boxes). Family 7 is a newly ascertained kindred with possible linkage and a centromeric recombination. B, Schematic representation of the disease-associated haplotypes (all red) in two large kindreds (Reynolds et al. 2000) and family 7, along with critical recombinant chromosomes that define the closest flanking markers (red boxes). Individual identifications correspond to previously published pedigrees for families 1 and 2 (Reynolds et al. 2000).

Airong Li, et al. Am J Hum Genet. 2003 March;72(3):691-703.
4.
Figure  2

Figure 2. From: Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease.

Positional cloning strategy for ADPLD. A, Genetic map position for microsatellite markers used in linkage mapping. Sex-averaged genetic distances (in cM), from the Marshfield map, are shown. B, Physical map of critical interval, showing newly identified markers including the closest flanking microsatellites CA267 and CA048 (bold). C, Partial representation of known genes and their direction of transcription (arrows). ZNF gene region, ∼1 Mb containing zinc finger genes, that is not conserved in the mouse genome. D, Genomic organization of PRKCSH; exons indicated by vertical bars.

Airong Li, et al. Am J Hum Genet. 2003 March;72(3):691-703.

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