PMID- 10366444
OWN - NLM
STAT- MEDLINE
DCOM- 19990816
LR  - 20071114
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 58
IP  - 2
DP  - 1999 Jun 1
TI  - Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants.
PG  - 129-37
AB  - Polycystic kidney disease (PKD) is a genetically heterogeneous disorder. In
      addition to the many PKD-causative loci mapped in mouse and human, a number of
      reports indicate that modifier loci greatly influence the course of disease
      progression. Recently we reported a new mouse mutation, kat2J, on chromosome
      (Chr) 8 that causes late-onset PKD and anemia. During the mapping studies it was 
      noted that the severity of PKD in the mutant (C57BL/6J-kat2J/+ x CAST/Ei)F2
      generation was more variable than that in the parental C57BL/6J strain. This
      suggested that genetic background or modifier genes alter the clinical
      manifestations and progression of PKD. Genome scans using molecular markers
      revealed three loci that affect the severity of PKD. The CAST-derived modifier on
      Chr 1 affects both kidney weight and hematocrit. The CAST-derived modifier on Chr
      19 affects kidney weight, and the C57BL/6J-derived modifier on Chr 2 affects
      hematocrit. Additional modifier loci are noted that interact with and modulate
      the effects of these three loci. The mapping of these modifier genes and their
      eventual identification will help to uncover factors that can delay disease
      progression. These, in turn, could be used to design suitable modes of therapy
      for various forms of human PKD.
CI  - Copyright 1999 Academic Press.
FAU - Upadhya, P
AU  - Upadhya P
AD  - The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, 04609, USA.
      pupadhya@aretha.jax.org p6
FAU - Churchill, G
AU  - Churchill G
FAU - Birkenmeier, E H
AU  - Birkenmeier EH
FAU - Barker, J E
AU  - Barker JE
FAU - Frankel, W N
AU  - Frankel WN
LA  - eng
GR  - CA34196/CA/NCI NIH HHS/United States
GR  - DK49634/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Animals
MH  - Chromosome Mapping
MH  - Disease Models, Animal
MH  - Genetic Markers
MH  - Genotype
MH  - Hematocrit
MH  - Humans
MH  - Kidney/anatomy & histology
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Mice, Transgenic
MH  - Polycystic Kidney, Autosomal Dominant/*genetics
EDAT- 1999/06/15 00:00
MHDA- 1999/06/15 00:01
CRDT- 1999/06/15 00:00
PHST- 1999/06/15 00:00 [pubmed]
PHST- 1999/06/15 00:01 [medline]
PHST- 1999/06/15 00:00 [entrez]
AID - S0888-7543(99)95830-5 [pii]
AID - 10.1006/geno.1999.5830 [doi]
PST - ppublish
SO  - Genomics. 1999 Jun 1;58(2):129-37. doi: 10.1006/geno.1999.5830.