Abstract
Using a bioinformatic approach, we have identified a new transcript, SLC7AS, mapping to 14q11.2, within the lysinuric protein intolerance (LPI) critical region. This gene is highly expressed in skeletal muscle, intestine, kidney, and placenta and encodes a predicted protein of 535 amino acids, homologous to the amino acid permease CD98 light chain and cationic amino acid transporters. RNA in situ hybridization data on mouse embryos confirm the expression in kidney and intestine and, interestingly, reveal that SLC7A8 is also highly expressed in eye, in retinal pigmented epithelium, and in tooth buds at day 16.5 of gestation. Mutational analysis excluded any direct involvement of the SLC7A8 gene product in LPI disease. The homology data and the expression pattern are in agreement with the hypothesis that SLC7A8 represents a novel light chain interacting with the 4F2 heavy chain in the multimeric complex mediating neutral and/or cationic amino acid transport and cystine/glutamate exchange.
| Original language | English |
|---|---|
| Pages (from-to) | 297-303 |
| Number of pages | 7 |
| Journal | Genomics |
| Volume | 62 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Dec 1 1999 |
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ASJC Scopus subject areas
- Genetics
Cite this
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoproteinassociated amino acid transporter family. / Bassi, Maria Teresa; Sperandeo, Maria Pia; Incerti, Barbara; Bulfone, Alessandro; Pepe, Antonio; Surace, Enrico Maria; Gattuso, Claudio; De Grandi, Alessandro; Buoninconti, Anna; Riboni, Mirko; Manzoni, Marta; Andria, Generoso; Ballabio, Andrea; Borsani, Giuseppe; Sebastio, Gianfranco.
In: Genomics, Vol. 62, No. 2, 01.12.1999, p. 297-303.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoproteinassociated amino acid transporter family
AU - Bassi, Maria Teresa
AU - Sperandeo, Maria Pia
AU - Incerti, Barbara
AU - Bulfone, Alessandro
AU - Pepe, Antonio
AU - Surace, Enrico Maria
AU - Gattuso, Claudio
AU - De Grandi, Alessandro
AU - Buoninconti, Anna
AU - Riboni, Mirko
AU - Manzoni, Marta
AU - Andria, Generoso
AU - Ballabio, Andrea
AU - Borsani, Giuseppe
AU - Sebastio, Gianfranco
PY - 1999/12/1
Y1 - 1999/12/1
N2 - Using a bioinformatic approach, we have identified a new transcript, SLC7AS, mapping to 14q11.2, within the lysinuric protein intolerance (LPI) critical region. This gene is highly expressed in skeletal muscle, intestine, kidney, and placenta and encodes a predicted protein of 535 amino acids, homologous to the amino acid permease CD98 light chain and cationic amino acid transporters. RNA in situ hybridization data on mouse embryos confirm the expression in kidney and intestine and, interestingly, reveal that SLC7A8 is also highly expressed in eye, in retinal pigmented epithelium, and in tooth buds at day 16.5 of gestation. Mutational analysis excluded any direct involvement of the SLC7A8 gene product in LPI disease. The homology data and the expression pattern are in agreement with the hypothesis that SLC7A8 represents a novel light chain interacting with the 4F2 heavy chain in the multimeric complex mediating neutral and/or cationic amino acid transport and cystine/glutamate exchange.
AB - Using a bioinformatic approach, we have identified a new transcript, SLC7AS, mapping to 14q11.2, within the lysinuric protein intolerance (LPI) critical region. This gene is highly expressed in skeletal muscle, intestine, kidney, and placenta and encodes a predicted protein of 535 amino acids, homologous to the amino acid permease CD98 light chain and cationic amino acid transporters. RNA in situ hybridization data on mouse embryos confirm the expression in kidney and intestine and, interestingly, reveal that SLC7A8 is also highly expressed in eye, in retinal pigmented epithelium, and in tooth buds at day 16.5 of gestation. Mutational analysis excluded any direct involvement of the SLC7A8 gene product in LPI disease. The homology data and the expression pattern are in agreement with the hypothesis that SLC7A8 represents a novel light chain interacting with the 4F2 heavy chain in the multimeric complex mediating neutral and/or cationic amino acid transport and cystine/glutamate exchange.
UR - http://www.scopus.com/inward/record.url?scp=0033383173&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033383173&partnerID=8YFLogxK
U2 - 10.1006/geno.1999.5978
DO - 10.1006/geno.1999.5978
M3 - Article
C2 - 10610726
AN - SCOPUS:0033383173
VL - 62
SP - 297
EP - 303
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -