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Five novelSLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance
- Source :
- Human Mutation. 20:375-381
- Publication Year :
- 2002
- Publisher :
- Hindawi Limited, 2002.
-
Abstract
- Two distinct human light subunits of the heteromeric amino acid transporter, y+LAT-1 coded by SLC7A7 and y+LAT-2 coded by SLC7A6, are both known to induce transport system y+L activity. SLC7A7 has already been identified as the gene responsible for lysinuric protein intolerance (LPI). We successfully identified five novel SLC7A7 variants (S238F, S489P, 1630delC, 1673delG, and IVS3-IVS5del9.7kb) in Japanese patients with LPI by PCR amplification and direct DNA sequencing. In addition, we performed a semi-quantitative expression analysis of SLC7A7 and SLC7A6 in human tissue. In normal tissue, the gene-expression ratio of SLC7A6 to SLC7A7 was high in the brain, muscle, and cultured skin fibroblasts; low in the kidneys and small intestine; and at an intermediate level in peripheral blood leukocytes, the lungs, and cultured lymphoblasts. The gene-expression ratio of SLC7A6 to SLC7A7 in cultured lymphoblasts was significantly different between normal subjects and LPI patients with R410X and/or S238F, where the relative amount of SLC7A7 mRNA was significantly lower and the relative amount of SLC7A6 mRNA was statistically higher in affected lymphoblasts than in normal cells. Expression of SLC7A7 and SLC7A6 may thus be interrelated in cultured lymphoblasts. Hum Mutat 20:375–381, 2002. © 2002 Wiley-Liss, Inc.
- Subjects :
- Male
Adolescent
Transcription, Genetic
DNA Mutational Analysis
Molecular Sequence Data
Biology
Lymphocyte Activation
law.invention
Japan
law
Gene expression
Genetics
medicine
Humans
Lymphocytes
RNA, Messenger
Amino acid transporter
Child
Gene
Cells, Cultured
Genetics (clinical)
Polymerase chain reaction
Cationic Amino Acid Transporter 1
Messenger RNA
Base Sequence
Fusion Regulatory Protein 1, Light Chains
Lymphoblast
Amino Acid Transport System y+L
Genetic Variation
medicine.disease
Molecular biology
Lysinuric protein intolerance
Small intestine
medicine.anatomical_structure
Biochemistry
Mutation
Amino Acid Transport Systems, Basic
Female
Amino Acid Transport Disorders, Inborn
Subjects
Details
- ISSN :
- 10981004 and 10597794
- Volume :
- 20
- Database :
- OpenAIRE
- Journal :
- Human Mutation
- Accession number :
- edsair.doi.dedup.....e9a34bf1c7008f580aa7bda51c1651ca