The amino acid transporter asc-1 is not involved in cystinuria
| العنوان: | The amino acid transporter asc-1 is not involved in cystinuria |
|---|---|
| المؤلفون: | Valeria Marigo, Giuseppe Borsani, Maria Teresa Bassi, Marta Pineda, Manuel Palacín, Marta Manzoni, Esperanza Fernández, Jesús Purroy, Mariona Font, Virginia Nunes, Antonio Zorzano, Rafael Martín del Río |
| المصدر: | Kidney International. 66:1453-1464 |
| بيانات النشر: | Elsevier BV, 2004. |
| سنة النشر: | 2004 |
| مصطلحات موضوعية: | cistinuria, espressione in situ, Amino Acid Transport System y+, heteromeric amino acid transporter, Xenopus, Gene Expression, Biology, Kidney Tubules, Proximal, Exon, asc-1, medicine, Animals, Humans, RNA, Messenger, Amino acid transporter, Amino Acids, SLC7A10, cystinuria, Gene, chemistry.chemical_classification, Alanine, Messenger RNA, Kidney, asc-1. cystinuria, Cystinuria, Water-Electrolyte Balance, medicine.disease, Amino acid, medicine.anatomical_structure, chemistry, Biochemistry, Nephrology, Mutation, Oocytes, HeLa Cells |
| الوصف: | The amino acid transporter asc-1 is not involved in cystinuria. Background The human amino acid transporter asc-1 ( SLC7A10 ) exhibits substrate selectivity for small neutral amino acids, including cysteine, is expressed in kidney, is located close to the cystinuria B gene and presents sequence variants (e.g., E112D) in some cystinuria patients. We have cloned human asc-1, assessed its transport characteristics, localized its expression in kidney, searched for mutations in cystinuria patients, and tested the transport function of variant E112D. Methods We used an EST-based homology cloning strategy. Transport characteristics of asc-1 were assessed by coexpression with 4F2hc in Xenopus oocytes and HeLa cells. Localization of asc-1 mRNA in kidney was assessed by in situ hybridization. Exons and intron-exon boundaries were polymerase chain reaction (PCR)-amplified from blood cell DNA and mutational screening was performed by single-stranded conformational polymorphism (SSCP). Results Asc-1 reaches the plasma membrane in HeLa cells, unlike in oocytes, most probably by interaction with endogenous 4F2hc and presents similar transport characteristics to those in oocytes coexpressing asc-1/4F2hc. Asc-1 mediates a substantial efflux of alanine in a facilitated diffusion mode of transport. Expression of asc-1 mRNA localized to Henle's loop, distal tubules, and collecting ducts. Finally, SLC7A10 polymorphisms were identified in cystinuria probands and the SLC7A10 sequence variant E112D showed full transport activity. Conclusion The lack of expression of asc-1 in the proximal tubule indicates that it plays no role in the bulk of renal reabsorption of amino acids. No mutations causing cystinuria have been found in SLC7A10 . The facilitated diffusion mode of transport and the expression in distal nephron suggest a role for asc-1 in osmotic adaptation. |
| تدمد: | 0085-2538 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb98a7defd4f08043b51eebc7fde11adTest https://doi.org/10.1111/j.1523-1755.2004.00908.xTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....bb98a7defd4f08043b51eebc7fde11ad |
| قاعدة البيانات: | OpenAIRE |
| ResultId |
1 |
|---|---|
| Header |
edsair OpenAIRE edsair.doi.dedup.....bb98a7defd4f08043b51eebc7fde11ad 785 3 unknown 785.463989257813 |
| PLink |
https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&scope=site&db=edsair&AN=edsair.doi.dedup.....bb98a7defd4f08043b51eebc7fde11ad&custid=s6537998&authtype=sso |
| FullText |
Array
(
[Availability] => 0
)
|
| Items |
Array
(
[Name] => Title
[Label] => Title
[Group] => Ti
[Data] => The amino acid transporter asc-1 is not involved in cystinuria
)
Array ( [Name] => Author [Label] => Authors [Group] => Au [Data] => <searchLink fieldCode="AR" term="%22Valeria+Marigo%22">Valeria Marigo</searchLink><br /><searchLink fieldCode="AR" term="%22Giuseppe+Borsani%22">Giuseppe Borsani</searchLink><br /><searchLink fieldCode="AR" term="%22Maria+Teresa+Bassi%22">Maria Teresa Bassi</searchLink><br /><searchLink fieldCode="AR" term="%22Marta+Pineda%22">Marta Pineda</searchLink><br /><searchLink fieldCode="AR" term="%22Manuel+Palacín%22">Manuel Palacín</searchLink><br /><searchLink fieldCode="AR" term="%22Marta+Manzoni%22">Marta Manzoni</searchLink><br /><searchLink fieldCode="AR" term="%22Esperanza+Fernández%22">Esperanza Fernández</searchLink><br /><searchLink fieldCode="AR" term="%22Jesús+Purroy%22">Jesús Purroy</searchLink><br /><searchLink fieldCode="AR" term="%22Mariona+Font%22">Mariona Font</searchLink><br /><searchLink fieldCode="AR" term="%22Virginia+Nunes%22">Virginia Nunes</searchLink><br /><searchLink fieldCode="AR" term="%22Antonio+Zorzano%22">Antonio Zorzano</searchLink><br /><searchLink fieldCode="AR" term="%22Rafael+Martín+del+Río%22">Rafael Martín del Río</searchLink> ) Array ( [Name] => TitleSource [Label] => Source [Group] => Src [Data] => <i>Kidney International</i>. 66:1453-1464 ) Array ( [Name] => Publisher [Label] => Publisher Information [Group] => PubInfo [Data] => Elsevier BV, 2004. ) Array ( [Name] => DatePubCY [Label] => Publication Year [Group] => Date [Data] => 2004 ) Array ( [Name] => Subject [Label] => Subject Terms [Group] => Su [Data] => <searchLink fieldCode="DE" term="%22cistinuria%22">cistinuria</searchLink><br /><searchLink fieldCode="DE" term="%22espressione+in+situ%22">espressione in situ</searchLink><br /><searchLink fieldCode="DE" term="%22Amino+Acid+Transport+System+y%2B%22">Amino Acid Transport System y+</searchLink><br /><searchLink fieldCode="DE" term="%22heteromeric+amino+acid+transporter%22">heteromeric amino acid transporter</searchLink><br /><searchLink fieldCode="DE" term="%22Xenopus%22">Xenopus</searchLink><br /><searchLink fieldCode="DE" term="%22Gene+Expression%22">Gene Expression</searchLink><br /><searchLink fieldCode="DE" term="%22Biology%22">Biology</searchLink><br /><searchLink fieldCode="DE" term="%22Kidney+Tubules%2C+Proximal%22">Kidney Tubules, Proximal</searchLink><br /><searchLink fieldCode="DE" term="%22Exon%22">Exon</searchLink><br /><searchLink fieldCode="DE" term="%22asc-1%22">asc-1</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%22">medicine</searchLink><br /><searchLink fieldCode="DE" term="%22Animals%22">Animals</searchLink><br /><searchLink fieldCode="DE" term="%22Humans%22">Humans</searchLink><br /><searchLink fieldCode="DE" term="%22RNA%2C+Messenger%22">RNA, Messenger</searchLink><br /><searchLink fieldCode="DE" term="%22Amino+acid+transporter%22">Amino acid transporter</searchLink><br /><searchLink fieldCode="DE" term="%22Amino+Acids%22">Amino Acids</searchLink><br /><searchLink fieldCode="DE" term="%22SLC7A10%22">SLC7A10</searchLink><br /><searchLink fieldCode="DE" term="%22cystinuria%22">cystinuria</searchLink><br /><searchLink fieldCode="DE" term="%22Gene%22">Gene</searchLink><br /><searchLink fieldCode="DE" term="%22chemistry%2Echemical%5Fclassification%22">chemistry.chemical_classification</searchLink><br /><searchLink fieldCode="DE" term="%22Alanine%22">Alanine</searchLink><br /><searchLink fieldCode="DE" term="%22Messenger+RNA%22">Messenger RNA</searchLink><br /><searchLink fieldCode="DE" term="%22Kidney%22">Kidney</searchLink><br /><searchLink fieldCode="DE" term="%22asc-1%2E+cystinuria%22">asc-1. cystinuria</searchLink><br /><searchLink fieldCode="DE" term="%22Cystinuria%22">Cystinuria</searchLink><br /><searchLink fieldCode="DE" term="%22Water-Electrolyte+Balance%22">Water-Electrolyte Balance</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%2Edisease%22">medicine.disease</searchLink><br /><searchLink fieldCode="DE" term="%22Amino+acid%22">Amino acid</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%2Eanatomical%5Fstructure%22">medicine.anatomical_structure</searchLink><br /><searchLink fieldCode="DE" term="%22chemistry%22">chemistry</searchLink><br /><searchLink fieldCode="DE" term="%22Biochemistry%22">Biochemistry</searchLink><br /><searchLink fieldCode="DE" term="%22Nephrology%22">Nephrology</searchLink><br /><searchLink fieldCode="DE" term="%22Mutation%22">Mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Oocytes%22">Oocytes</searchLink><br /><searchLink fieldCode="DE" term="%22HeLa+Cells%22">HeLa Cells</searchLink> ) Array ( [Name] => Abstract [Label] => Description [Group] => Ab [Data] => The amino acid transporter asc-1 is not involved in cystinuria. Background The human amino acid transporter asc-1 ( SLC7A10 ) exhibits substrate selectivity for small neutral amino acids, including cysteine, is expressed in kidney, is located close to the cystinuria B gene and presents sequence variants (e.g., E112D) in some cystinuria patients. We have cloned human asc-1, assessed its transport characteristics, localized its expression in kidney, searched for mutations in cystinuria patients, and tested the transport function of variant E112D. Methods We used an EST-based homology cloning strategy. Transport characteristics of asc-1 were assessed by coexpression with 4F2hc in Xenopus oocytes and HeLa cells. Localization of asc-1 mRNA in kidney was assessed by in situ hybridization. Exons and intron-exon boundaries were polymerase chain reaction (PCR)-amplified from blood cell DNA and mutational screening was performed by single-stranded conformational polymorphism (SSCP). Results Asc-1 reaches the plasma membrane in HeLa cells, unlike in oocytes, most probably by interaction with endogenous 4F2hc and presents similar transport characteristics to those in oocytes coexpressing asc-1/4F2hc. Asc-1 mediates a substantial efflux of alanine in a facilitated diffusion mode of transport. Expression of asc-1 mRNA localized to Henle's loop, distal tubules, and collecting ducts. Finally, SLC7A10 polymorphisms were identified in cystinuria probands and the SLC7A10 sequence variant E112D showed full transport activity. Conclusion The lack of expression of asc-1 in the proximal tubule indicates that it plays no role in the bulk of renal reabsorption of amino acids. No mutations causing cystinuria have been found in SLC7A10 . The facilitated diffusion mode of transport and the expression in distal nephron suggest a role for asc-1 in osmotic adaptation. ) Array ( [Name] => ISSN [Label] => ISSN [Group] => ISSN [Data] => 0085-2538 ) Array ( [Name] => URL [Label] => Access URL [Group] => URL [Data] => <link linkTarget="URL" linkTerm="https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb98a7defd4f08043b51eebc7fde11ad" linkWindow="_blank">https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb98a7defd4f08043b51eebc7fde11ad</link><br /><link linkTarget="URL" linkTerm="https://doi.org/10.1111/j.1523-1755.2004.00908.x" linkWindow="_blank">https://doi.org/10.1111/j.1523-1755.2004.00908.x</link> ) Array ( [Name] => Copyright [Label] => Rights [Group] => Cpyrght [Data] => OPEN ) Array ( [Name] => AN [Label] => Accession Number [Group] => ID [Data] => edsair.doi.dedup.....bb98a7defd4f08043b51eebc7fde11ad ) |
| RecordInfo |
Array
(
[BibEntity] => Array
(
[Languages] => Array
(
[0] => Array
(
[Text] => Undetermined
)
)
[PhysicalDescription] => Array
(
[Pagination] => Array
(
[PageCount] => 12
[StartPage] => 1453
)
)
[Subjects] => Array
(
[0] => Array
(
[SubjectFull] => cistinuria
[Type] => general
)
[1] => Array
(
[SubjectFull] => espressione in situ
[Type] => general
)
[2] => Array
(
[SubjectFull] => Amino Acid Transport System y+
[Type] => general
)
[3] => Array
(
[SubjectFull] => heteromeric amino acid transporter
[Type] => general
)
[4] => Array
(
[SubjectFull] => Xenopus
[Type] => general
)
[5] => Array
(
[SubjectFull] => Gene Expression
[Type] => general
)
[6] => Array
(
[SubjectFull] => Biology
[Type] => general
)
[7] => Array
(
[SubjectFull] => Kidney Tubules, Proximal
[Type] => general
)
[8] => Array
(
[SubjectFull] => Exon
[Type] => general
)
[9] => Array
(
[SubjectFull] => asc-1
[Type] => general
)
[10] => Array
(
[SubjectFull] => medicine
[Type] => general
)
[11] => Array
(
[SubjectFull] => Animals
[Type] => general
)
[12] => Array
(
[SubjectFull] => Humans
[Type] => general
)
[13] => Array
(
[SubjectFull] => RNA, Messenger
[Type] => general
)
[14] => Array
(
[SubjectFull] => Amino acid transporter
[Type] => general
)
[15] => Array
(
[SubjectFull] => Amino Acids
[Type] => general
)
[16] => Array
(
[SubjectFull] => SLC7A10
[Type] => general
)
[17] => Array
(
[SubjectFull] => cystinuria
[Type] => general
)
[18] => Array
(
[SubjectFull] => Gene
[Type] => general
)
[19] => Array
(
[SubjectFull] => chemistry.chemical_classification
[Type] => general
)
[20] => Array
(
[SubjectFull] => Alanine
[Type] => general
)
[21] => Array
(
[SubjectFull] => Messenger RNA
[Type] => general
)
[22] => Array
(
[SubjectFull] => Kidney
[Type] => general
)
[23] => Array
(
[SubjectFull] => asc-1. cystinuria
[Type] => general
)
[24] => Array
(
[SubjectFull] => Cystinuria
[Type] => general
)
[25] => Array
(
[SubjectFull] => Water-Electrolyte Balance
[Type] => general
)
[26] => Array
(
[SubjectFull] => medicine.disease
[Type] => general
)
[27] => Array
(
[SubjectFull] => Amino acid
[Type] => general
)
[28] => Array
(
[SubjectFull] => medicine.anatomical_structure
[Type] => general
)
[29] => Array
(
[SubjectFull] => chemistry
[Type] => general
)
[30] => Array
(
[SubjectFull] => Biochemistry
[Type] => general
)
[31] => Array
(
[SubjectFull] => Nephrology
[Type] => general
)
[32] => Array
(
[SubjectFull] => Mutation
[Type] => general
)
[33] => Array
(
[SubjectFull] => Oocytes
[Type] => general
)
[34] => Array
(
[SubjectFull] => HeLa Cells
[Type] => general
)
)
[Titles] => Array
(
[0] => Array
(
[TitleFull] => The amino acid transporter asc-1 is not involved in cystinuria
[Type] => main
)
)
)
[BibRelationships] => Array
(
[HasContributorRelationships] => Array
(
[0] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Valeria Marigo
)
)
)
[1] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Giuseppe Borsani
)
)
)
[2] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Maria Teresa Bassi
)
)
)
[3] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Marta Pineda
)
)
)
[4] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Manuel Palacín
)
)
)
[5] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Marta Manzoni
)
)
)
[6] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Esperanza Fernández
)
)
)
[7] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Jesús Purroy
)
)
)
[8] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Mariona Font
)
)
)
[9] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Virginia Nunes
)
)
)
[10] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Antonio Zorzano
)
)
)
[11] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Rafael Martín del Río
)
)
)
)
[IsPartOfRelationships] => Array
(
[0] => Array
(
[BibEntity] => Array
(
[Dates] => Array
(
[0] => Array
(
[D] => 01
[M] => 10
[Type] => published
[Y] => 2004
)
)
[Identifiers] => Array
(
[0] => Array
(
[Type] => issn-print
[Value] => 00852538
)
[1] => Array
(
[Type] => issn-locals
[Value] => edsair
)
[2] => Array
(
[Type] => issn-locals
[Value] => edsairFT
)
)
[Numbering] => Array
(
[0] => Array
(
[Type] => volume
[Value] => 66
)
)
[Titles] => Array
(
[0] => Array
(
[TitleFull] => Kidney International
[Type] => main
)
)
)
)
)
)
)
|
| IllustrationInfo |