PMID- 10468599
OWN - NLM
STAT- MEDLINE
DCOM- 19991007
LR  - 20190501
IS  - 0027-8424 (Print)
IS  - 0027-8424 (Linking)
VI  - 96
IP  - 18
DP  - 1999 Aug 31
TI  - Three new allelic mouse mutations that cause skeletal overgrowth involve the
      natriuretic peptide receptor C gene (Npr3).
PG  - 10278-83
AB  - In 1979, a BALB/cJ mouse was identified with an exceptionally long body. This
      phenotype was found to be caused by a recessive mutation, designated longjohn
      (lgj), that mapped to the proximal region of chromosome 15. Several years later, 
      a mouse with a similarly elongated body was identified in an outbred stock after 
      chemical mutagenesis with ethylnitrosourea. This phenotype also was caused by a
      recessive mutation, designated strigosus (stri). The two mutations were found to 
      be allelic. A third allele was identified in a DBA/2J mouse and was designated
      longjohn-2J (lgj(2J)). Analysis of skeletal preparations of stri/stri mice
      indicated that the endochondral ossification process was slightly delayed,
      resulting in an extended proliferation zone. A recent study reported that mice
      overexpressing brain natriuretic peptide, one of the members of the natriuretic
      peptide family, exhibit a skeletal-overgrowth syndrome with endochondral
      ossification defects. The Npr3 gene coding for type C receptor for natriuretic
      peptides (NPR-C), which is mainly involved in the clearance of the natriuretic
      peptides, mapped in the vicinity of our mouse mutations and thus was a candidate 
      gene. The present study reports that all three mutations involve the Npr3 gene
      and provides evidence in vivo that there is a natriuretic-related bone pathway,
      underscoring the importance of natriuretic peptide clearance by natriuretic
      peptide type C receptor.
FAU - Jaubert, J
AU  - Jaubert J
AD  - Unite de Genetique des Mammiferes, Institut Pasteur, 25 Rue du Docteur Roux,
      75724 Paris Cedex 15, France.
FAU - Jaubert, F
AU  - Jaubert F
FAU - Martin, N
AU  - Martin N
FAU - Washburn, L L
AU  - Washburn LL
FAU - Lee, B K
AU  - Lee BK
FAU - Eicher, E M
AU  - Eicher EM
FAU - Guenet, J L
AU  - Guenet JL
LA  - eng
SI  - GENBANK/AF131861
SI  - GENBANK/AF131862
SI  - GENBANK/AF131863
SI  - GENBANK/AF131864
GR  - RR01183/RR/NCRR NIH HHS/United States
GR  - GM20919/GM/NIGMS NIH HHS/United States
GR  - F31 GM020919/GM/NIGMS NIH HHS/United States
GR  - P40 RR001183/RR/NCRR NIH HHS/United States
GR  - R37 GM020919/GM/NIGMS NIH HHS/United States
GR  - R01 GM020919/GM/NIGMS 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  - Proc Natl Acad Sci U S A
JT  - Proceedings of the National Academy of Sciences of the United States of America
JID - 7505876
RN  - EC 4.6.1.2 (Guanylate Cyclase)
RN  - EC 4.6.1.2 (Receptors, Atrial Natriuretic Factor)
RN  - EC 4.6.1.2 (atrial natriuretic factor receptor C)
SB  - IM
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Animals
MH  - Body Constitution/genetics
MH  - Bone and Bones/*abnormalities
MH  - Cattle
MH  - *Chromosome Mapping
MH  - Genes, Recessive
MH  - Guanylate Cyclase/chemistry/*genetics
MH  - Humans
MH  - Mice
MH  - Mice, Inbred BALB C
MH  - Mice, Mutant Strains/*genetics
MH  - Molecular Sequence Data
MH  - Rats
MH  - Receptors, Atrial Natriuretic Factor/chemistry/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
PMC - PMC17879
EDAT- 1999/09/01 00:00
MHDA- 1999/09/01 00:01
CRDT- 1999/09/01 00:00
PHST- 1999/09/01 00:00 [pubmed]
PHST- 1999/09/01 00:01 [medline]
PHST- 1999/09/01 00:00 [entrez]
AID - 10.1073/pnas.96.18.10278 [doi]
PST - ppublish
SO  - Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10278-83. doi:
      10.1073/pnas.96.18.10278.