Kun Wang, Bing Zhou, Yien-Ming Kuo, Jason Zemansky, Jane Gitschier

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A Novel Member of a Zinc Transporter Family Is Defective in Acrodermatitis Enteropathica Kun Wang, Bing Zhou, Yien-Ming Kuo, Jason Zemansky, Jane Gitschier The American Journal of Human Genetics Volume 71, Issue 1, Pages 66-73 (July 2002) DOI: 10.1086/341125 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Sequence alignment of human ZIP4 and other human zinc transporters and related proteins. hZIP4 was used as a query to identify all human members of the ZIP family in public databases. All resulting human sequences are aligned according to their relatedness. Residues with ⩾50% identity are shaded black. Putative transmembrane (TM) domains are indicated by the horizontal lines, as is the putative signal-peptide sequence (predicted by the CBS SignalP V1.1 World Wide Web Prediction Server; also see Nielsen et al. 1997). A potential N-glycosylation site is indicated by an asterisk (*). Locations of amino acid changes found in patients with AE are noted above the hZIP4 sequence. Common polymorphisms, found in the process of sequencing DNA samples from patients and control subjects, include A272G (resulting in T58A), A440G (resulting in T114A), G1169A (resulting in A357T), and C2041T (resulting in F647F). Sequence records for the proteins shown in panel A—hZIP4 (accession number XP_035362); hLIV-1 (accession number XP_029402), in which hORF1 is derived from the nucleotide sequence (accession number AC023500); hKE4 (accession number CAA20238); hZIP1 (accession number XP_001483); hZIP2 (accession number XP_007499); and hZIP3 (accession number AAH05869)—are available at the National Center for Biotechnology Information Web site. The American Journal of Human Genetics 2002 71, 66-73DOI: (10.1086/341125) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Sequence alignment of human ZIP4 and other human zinc transporters and related proteins. hZIP4 was used as a query to identify all human members of the ZIP family in public databases. All resulting human sequences are aligned according to their relatedness. Residues with ⩾50% identity are shaded black. Putative transmembrane (TM) domains are indicated by the horizontal lines, as is the putative signal-peptide sequence (predicted by the CBS SignalP V1.1 World Wide Web Prediction Server; also see Nielsen et al. 1997). A potential N-glycosylation site is indicated by an asterisk (*). Locations of amino acid changes found in patients with AE are noted above the hZIP4 sequence. Common polymorphisms, found in the process of sequencing DNA samples from patients and control subjects, include A272G (resulting in T58A), A440G (resulting in T114A), G1169A (resulting in A357T), and C2041T (resulting in F647F). Sequence records for the proteins shown in panel A—hZIP4 (accession number XP_035362); hLIV-1 (accession number XP_029402), in which hORF1 is derived from the nucleotide sequence (accession number AC023500); hKE4 (accession number CAA20238); hZIP1 (accession number XP_001483); hZIP2 (accession number XP_007499); and hZIP3 (accession number AAH05869)—are available at the National Center for Biotechnology Information Web site. The American Journal of Human Genetics 2002 71, 66-73DOI: (10.1086/341125) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 Tree made by TreeView (Page 1996), demonstrating that hZIP4 falls within the LIV-1 subfamily of the human sequences. The American Journal of Human Genetics 2002 71, 66-73DOI: (10.1086/341125) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 Tissue distribution of SLC39A4 expression. A, Hybridization of human SLC39A4 probes to Clontech human MTN blots and digestive-system northern blots. A 2.2-kb mRNA species was present at high levels in kidney and also in small intestine, colon, and most of the intestinal tract. The horizontal lines indicate the position of the molecular-weight markers in each blot. B, In situ hybridization of murine Slc39A4 antisense on adult mouse colon sections, at 10× and 40× magnification. Hybridization to the antisense probe is abundant in the enterocyte, whereas no hybridization is detected in the control (i.e., sense) probe. C, Immunohistochemical localization of mouse Zip4 to the apical membrane of the enterocyte in mouse colon. The red arrow indicates the apical surface, and the blue staining indicates nuclei stained with DAPI. Only nonspecific binding is seen with the preimmune sera. An identical result was obtained on paraffin-embedded tissue visualized with diamobenzidine (data not shown). The American Journal of Human Genetics 2002 71, 66-73DOI: (10.1086/341125) Copyright © 2002 The American Society of Human Genetics Terms and Conditions