TY - JOUR
T1 - Distribution of cystinosin-LKG in human tissues
AU - Taranta, Anna
AU - Petrini, Stefania
AU - Citti, Arianna
AU - Boldrini, Renata
AU - Corallini, Serena
AU - Bellomo, Francesco
AU - Levtchenko, Elena
AU - Emma, Francesco
N1 - Funding Information: Acknowledgments This work was supported by grants of Cystinosis Research Network (Lake Forest, IL, USA) and Cystinosis Research Foundation (Irvine, CA, USA). E. Levtchenko is supported by the Fund for Scientific Research, Flanders (Belgium) (F.W.O. Vlaanderen) (Grant Agreement 1801110N).
PY - 2012/8
Y1 - 2012/8
N2 - Nephropathic cystinosis is multisystemic progressive disorder caused by mutations of CTNS gene that encodes for the lysosomal cystine co-transporter cystinosin, and for a less abundant isoform termed cystinosin-LKG, which is expressed in not only lysosomes but also other cell compartments. To overcome the absence of highquality antibodies against cystinosin, we have obtained a rabbit antiserum against cystinosin-LKG and have analyzed in human tissues the expression of the two known cystinosin isoforms by RT-PCR, and the expression of cystinosin-LKG by immunohistochemistry. In most tissues, CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions. Cystinosin-LKG was found to be highly expressed in renal tubular cells, pancreatic islets of Langerhans, Leydig cells of the testis, mucoserous glands of the bronchial wall, melanocytes and keratinocytes. These results are parallel with many features of cystinosis, such as early onset Fanconi syndrome, male infertility, diabetes mellitus and hypopigmentation. Intermediate expression levels were of the LKG isoform observed in the gastrointestinal tract and thyroid glands; low levels of expression were observed in the brain, skeletal and cardiac muscles.
AB - Nephropathic cystinosis is multisystemic progressive disorder caused by mutations of CTNS gene that encodes for the lysosomal cystine co-transporter cystinosin, and for a less abundant isoform termed cystinosin-LKG, which is expressed in not only lysosomes but also other cell compartments. To overcome the absence of highquality antibodies against cystinosin, we have obtained a rabbit antiserum against cystinosin-LKG and have analyzed in human tissues the expression of the two known cystinosin isoforms by RT-PCR, and the expression of cystinosin-LKG by immunohistochemistry. In most tissues, CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions. Cystinosin-LKG was found to be highly expressed in renal tubular cells, pancreatic islets of Langerhans, Leydig cells of the testis, mucoserous glands of the bronchial wall, melanocytes and keratinocytes. These results are parallel with many features of cystinosis, such as early onset Fanconi syndrome, male infertility, diabetes mellitus and hypopigmentation. Intermediate expression levels were of the LKG isoform observed in the gastrointestinal tract and thyroid glands; low levels of expression were observed in the brain, skeletal and cardiac muscles.
KW - Cystinosin-LKG
KW - Cystinosis
UR - http://www.scopus.com/inward/record.url?scp=84867398846&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/s00418-012-0958-8
DO - https://doi.org/10.1007/s00418-012-0958-8
M3 - Article
C2 - 22544350
SN - 0948-6143
VL - 138
SP - 351
EP - 363
JO - Histochemistry and Cell Biology
JF - Histochemistry and Cell Biology
IS - 2
ER -