The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.

Abstract:

:By screening an expressed sequence tag database, we identified a novel human gene, SLC7A4, encoding a solute carrier family 7 [cationic amino acid (CAA) CAT-4 transporter, y+ system] member 4. The SLC7A4 cDNA is 2325 nt long and includes 78, 1911, and 336 nt in the 5' noncoding, coding, and 3'-noncoding regions, respectively. SLC7A4 displays high homology with SLC7A1 and SLC7A2, two previously known CAA transporters. By chromosomal in situ hybridization and YAC identification, SLC7A4 was mapped to 22q11.2, the commonly deleted region of the velocardiofacial syndrome (VCFS, Shprintzen syndrome). In a patient affected by VCFS, deletion of SLC7A4 was demonstrated by chromosomal FISH. By Northern analysis, an abundant transcript was detected in brain, testis, and placenta. Microinjection of SLC7A4 mRNA into Xenopus laevis oocytes demonstrates a significant stimulation of CAA transport.

journal_name

Genomics

journal_title

Genomics

authors

Sperandeo MP,Borsani G,Incerti B,Zollo M,Rossi E,Zuffardi O,Castaldo P,Taglialatela M,Andria G,Sebastio G

doi

10.1006/geno.1998.5252

subject

Has Abstract

pub_date

1998-04-15 00:00:00

pages

230-6

issue

2

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(98)95252-1

journal_volume

49

pub_type

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