PMID- 10471498
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20170922
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 1
DP  - 1999 Sep
TI  - Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) 
      of rBAT.
PG  - 52-7
AB  - Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of
      cystine and dibasic amino acids. Mutations in SLC3A1, encoding rBAT, cause
      cystinuria type I (ref. 1), but not other types of cystinuria (ref. 2). A gene
      whose mutation causes non-type I cystinuria has been mapped by linkage analysis
      to 19q12-13.1 (Refs 3,4). We have identified a new transcript, encoding a protein
      (bo, +AT, for bo,+ amino acid transporter) belonging to a family of light
      subunits of amino acid transporters, expressed in kidney, liver, small intestine 
      and placenta, and localized its gene (SLC7A9) to the non-type I cystinuria 19q
      locus. Co-transfection of bo,+AT and rBAT brings the latter to the plasma
      membrane, and results in the uptake of L-arginine in COS cells. We have found
      SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I
      cystinuria patients. The Libyan Jewish patients are homozygous for a founder
      missense mutation (V170M) that abolishes b o,+AT amino-acid uptake activity when 
      co-transfected with rBAT in COS cells. We identified four missense mutations
      (G105R, A182T, G195R and G295R) and two frameshift (520insT and 596delTG)
      mutations in other patients. Our data establish that mutations in SLC7A9 cause
      non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT.
FAU - Feliubadalo, L
AU  - Feliubadalo L
AD  - Centre de Genetica Medica i Molecular (IRO), Hospital Duran i Reynals, Autovia de
      Castelldefels Km 2.7, L'Hospitalet de Llobregat, Barcelona, E-08907, Spain.
FAU - Font, M
AU  - Font M
FAU - Purroy, J
AU  - Purroy J
FAU - Rousaud, F
AU  - Rousaud F
FAU - Estivill, X
AU  - Estivill X
FAU - Nunes, V
AU  - Nunes V
FAU - Golomb, E
AU  - Golomb E
FAU - Centola, M
AU  - Centola M
FAU - Aksentijevich, I
AU  - Aksentijevich I
FAU - Kreiss, Y
AU  - Kreiss Y
FAU - Goldman, B
AU  - Goldman B
FAU - Pras, M
AU  - Pras M
FAU - Kastner, D L
AU  - Kastner DL
FAU - Pras, E
AU  - Pras E
FAU - Gasparini, P
AU  - Gasparini P
FAU - Bisceglia, L
AU  - Bisceglia L
FAU - Beccia, E
AU  - Beccia E
FAU - Gallucci, M
AU  - Gallucci M
FAU - de Sanctis, L
AU  - de Sanctis L
FAU - Ponzone, A
AU  - Ponzone A
FAU - Rizzoni, G F
AU  - Rizzoni GF
FAU - Zelante, L
AU  - Zelante L
FAU - Bassi, M T
AU  - Bassi MT
FAU - George, A L Jr
AU  - George AL Jr
FAU - Manzoni, M
AU  - Manzoni M
FAU - De Grandi, A
AU  - De Grandi A
FAU - Riboni, M
AU  - Riboni M
FAU - Endsley, J K
AU  - Endsley JK
FAU - Ballabio, A
AU  - Ballabio A
FAU - Borsani, G
AU  - Borsani G
FAU - Reig, N
AU  - Reig N
FAU - Fernandez, E
AU  - Fernandez E
FAU - Estevez, R
AU  - Estevez R
FAU - Pineda, M
AU  - Pineda M
FAU - Torrents, D
AU  - Torrents D
FAU - Camps, M
AU  - Camps M
FAU - Lloberas, J
AU  - Lloberas J
FAU - Zorzano, A
AU  - Zorzano A
FAU - Palacin, M
AU  - Palacin M
CN  - International Cystinuria Consortium
LA  - eng
SI  - GENBANK/AF139859
SI  - GENBANK/AF139861
SI  - GENBANK/AF139862
SI  - GENBANK/AF139863
SI  - GENBANK/AF141289
GR  - E.0556/Telethon/Italy
GR  - TGM06S01/Telethon/Italy
GR  - TGM97000/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Amino Acid Transport Systems, Basic)
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA, Complementary)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (SLC7A9 protein, human)
SB  - IM
MH  - Amino Acid Sequence
MH  - *Amino Acid Transport Systems, Basic
MH  - Animals
MH  - COS Cells
MH  - Carrier Proteins/*genetics
MH  - Chromosomes, Human, Pair 19
MH  - Cystinuria/ethnology/*genetics
MH  - DNA, Complementary/analysis
MH  - Female
MH  - *Frameshift Mutation
MH  - Humans
MH  - Italy
MH  - Jews
MH  - Libya
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Models, Biological
MH  - Molecular Sequence Data
MH  - *Mutation, Missense
MH  - North America
MH  - Pedigree
MH  - Sequence Homology, Amino Acid
MH  - Spain
MH  - Tissue Distribution
EDAT- 1999/09/02 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/09/02 09:00
PHST- 1999/09/02 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/09/02 09:00 [entrez]
AID - 10.1038/12652 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652.