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Analysis of zinc transporter, hZnT4(Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk
journal contribution
posted on 2003-08-01, 00:00 authored by Agnes MichalczykAgnes Michalczyk, G Varigos, A Catto-Smith, R Blomeley, Leigh AcklandLeigh AcklandZinc deficiency, causing impaired growth and development, may have a nutritional or genetic basis. We investigated two cases of inherited zinc deficiency found in breast-fed neonates, caused by low levels of zinc in the maternal milk. This condition is different from acrodermatitis enteropathica but has similarities to the "lethal milk" mouse, where low levels of zinc in the milk of lactating dams leads to zinc deficiency in pups. The mouse disorder has been attributed to a defect in the ZnT4 gene. Little is known about the expression of the human orthologue, hZnT4 (Slc30A4). Sequence analysis of cDNA, real-time PCR and Western blot analysis of hZnT4, carried out on control cells and cells from unrelated mothers of two infants with zinc deficiency, showed no differences. The hZnT4 gene was highly expressed in mouthwash buccal cells compared with lymphoblasts and fibroblasts. The hZnT4 protein did not co-localise with intracellular free zinc pools, suggesting that hZnT4 is not involved in transport of zinc into vesicles destined for secretion into milk. This observation, combined with phenotypic differences between the "lethal milk" mouse and the human disorder, suggests that the "lethal milk" mouse is not the corresponding model for the human zinc deficiency condition.
History
Journal
Human geneticsVolume
113Issue
3Pagination
202 - 210Publisher
Springer-VerlagLocation
Berlin, GermanyPublisher DOI
ISSN
0340-6717eISSN
1432-1203Language
engPublication classification
C1 Refereed article in a scholarly journalCopyright notice
2003, Springer-VerlagUsage metrics
Categories
Keywords
zinc deficiencybreast diseases -- geneticscation transport proteinscarrier proteins -- geneticsmetabolisminborn errors -- geneticsScience & TechnologyLife Sciences & BiomedicineGenetics & HeredityACRODERMATITIS-ENTEROPATHICALETHAL-MILKPREMATURE-INFANTEPITHELIAL-CELLSPRETERM INFANTLABILE ZINCDEFICIENCYMUTATIONLOCALIZATIONGenetics
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