Analysis of zinc transporter, hZnT4(Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk

Michalczyk, Agnes, Varigos, George, Catto-Smith, Anthony, Blomeley, Rachael C. and Ackland, Leigh 2003, Analysis of zinc transporter, hZnT4(Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk, Human genetics, vol. 113, no. 3, pp. 202-210, doi: 10.1007/s00439-003-0952-2.

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Title Analysis of zinc transporter, hZnT4(Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk
Author(s) Michalczyk, AgnesORCID iD for Michalczyk, Agnes orcid.org/0000-0001-5716-0783
Varigos, George
Catto-Smith, Anthony
Blomeley, Rachael C.
Ackland, LeighORCID iD for Ackland, Leigh orcid.org/0000-0002-7474-6556
Journal name Human genetics
Volume number 113
Issue number 3
Start page 202
End page 210
Publisher Springer-Verlag
Place of publication Berlin, Germany
Publication date 2003-08
ISSN 0340-6717
1432-1203
Keyword(s) zinc deficiency
breast diseases -- genetics
cation transport proteins
carrier proteins -- genetics
metabolism
inborn errors -- genetics
Summary Zinc 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.
Language eng
DOI 10.1007/s00439-003-0952-2
Field of Research 060199 Biochemistry and Cell Biology not elsewhere classified
Socio Economic Objective 970106 Expanding Knowledge in the Biological Sciences
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2003, Springer-Verlag
Persistent URL http://hdl.handle.net/10536/DRO/DU:30002200

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