PMID- 10087192
OWN - NLM
STAT- MEDLINE
DCOM- 19990524
LR  - 20071114
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 56
IP  - 3
DP  - 1999 Mar 15
TI  - A novel putative transporter maps to the osteosclerosis (oc) mutation and is not 
      expressed in the oc mutant mouse.
PG  - 254-61
AB  - The phenotype of mice homozygous for the osteosclerosis (oc) mutation includes
      osteopetrosis, and a variety of studies demonstrate that osteoclasts in these
      mice are present but nonfunctional. We have identified a novel gene that has
      homology to a family of 12-transmembrane domain proteins with transport functions
      and maps to proximal mouse chromosome 19, in a region to which the oc mutation
      has been previously assigned. The putative transporter is abundant in normal
      kidney, but its expression is markedly reduced in kidneys from oc/oc mice when
      tested using Northern and Western analyses. Southern analysis of this gene, which
      we call Roct (reduced in oc transporter), demonstrates that it is intact and
      unrearranged in oc/oc mice. In situ studies show that Roct is expressed in
      developing bone. We propose that the absence of Roct expression results in an
      osteopetrosis phenotype in mice.
CI  - Copyright 1999 Academic Press.
FAU - Brady, K P
AU  - Brady KP
AD  - Genetics Division, Renal Division, Brigham & Women's Hospital, Harvard Medical
      School, 75 Francis Street, Boston, Massachusetts, 02115, USA.
FAU - Dushkin, H
AU  - Dushkin H
FAU - Fornzler, D
AU  - Fornzler D
FAU - Koike, T
AU  - Koike T
FAU - Magner, F
AU  - Magner F
FAU - Her, H
AU  - Her H
FAU - Gullans, S
AU  - Gullans S
FAU - Segre, G V
AU  - Segre GV
FAU - Green, R M
AU  - Green RM
FAU - Beier, D R
AU  - Beier DR
LA  - eng
SI  - GENBANK/AF078869
SI  - GENBANK/AF078870
GR  - DK36031/DK/NIDDK NIH HHS/United States
GR  - DK45639/DK/NIDDK NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Carrier Proteins)
RN  - 0 (Drosophila Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (Orct protein, Drosophila)
RN  - 0 (Organic Anion Transport Protein 1)
RN  - 0 (Organic Anion Transporters)
RN  - 0 (Organic Anion Transporters, Sodium-Independent)
RN  - 0 (Organic Cation Transport Proteins)
RN  - 0 (Slc22a6 protein, mouse)
RN  - 0 (Slc22a7 protein, mouse)
RN  - 0 (organic anion transport protein 3)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Blotting, Northern
MH  - Blotting, Western
MH  - Bone and Bones/anatomy & histology/metabolism
MH  - Carrier Proteins/*genetics
MH  - *Drosophila Proteins
MH  - Haplotypes
MH  - In Situ Hybridization
MH  - Kidney/anatomy & histology/metabolism
MH  - Membrane Proteins/genetics
MH  - *Membrane Transport Proteins
MH  - Mice
MH  - Mice, Mutant Strains
MH  - Molecular Sequence Data
MH  - Organic Anion Transport Protein 1
MH  - *Organic Anion Transporters
MH  - *Organic Anion Transporters, Sodium-Independent
MH  - *Organic Cation Transport Proteins
MH  - Osteopetrosis/genetics
MH  - Osteosclerosis/*genetics
MH  - Polycystic Kidney Diseases/genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Amino Acid
MH  - Tissue Distribution
EDAT- 1999/03/24 00:00
MHDA- 1999/03/24 00:01
CRDT- 1999/03/24 00:00
PHST- 1999/03/24 00:00 [pubmed]
PHST- 1999/03/24 00:01 [medline]
PHST- 1999/03/24 00:00 [entrez]
AID - S0888-7543(98)95722-6 [pii]
AID - 10.1006/geno.1998.5722 [doi]
PST - ppublish
SO  - Genomics. 1999 Mar 15;56(3):254-61. doi: 10.1006/geno.1998.5722.