EEG1, a putative transporter expressed during epithelial organogenesis: comparison with embryonic transporter expression during nephrogenesis

2001 ◽  
Vol 281 (6) ◽  
pp. F1148-F1156 ◽  
Author(s):  
Robert O. Stuart ◽  
Anna Pavlova ◽  
David Beier ◽  
Zhixing Li ◽  
Yelena Krijanovski ◽  
...  

A screen for genes differentially regulated in a model of kidney development identified the novel gene embryonic epithelia gene 1 (EEG1). EEG1 exists as two transcripts of 2.4 and 3.5 kb that are most highly expressed at embryonic day 7 and later in the fetal liver, lung, placenta, and kidney. The EEG1 gene is composed of 14 exons spanning a 20-kb region at human chromosome 11p12 and the syntenic region of mouse chromosome 2. Six EEG1 exons have previously been assigned to a longer isoform of eosinophil major basic protein termed proteoglycan 2. Another gene distantly related to EEG1, POV1/PB39, is located 88 kb upstream from the EEG1 gene on chromosome 11. Temporal expression of 65 members of the solute carrier (SLC)-class of transport proteins was followed during kidney development using DNA arrays. POV-1 and EEG1, like glucose transporters, displayed very early maximal gene expression. In contrast, other SLC genes, such as organic anion and cation transporters, amino acid permeases, and nucleoside transporters, had maximal expression later in development. Thus, although the bulk of transporters are expressed late in kidney development, a fraction are expressed near the onset of nephrogenesis. The data raise the possibility that EEG1 and POV1 may define a new family of transport proteins involved in the transport of nutrients or metabolites in rapidly growing and/or developing tissues.

1998 ◽  
Vol 9 (2) ◽  
pp. 103-106 ◽  
Author(s):  
Donald B. Palmer ◽  
John H. McVey ◽  
Reshma Purohit ◽  
Jean Picard ◽  
P. Julian Dyson

1993 ◽  
Vol 37 (4) ◽  
pp. 288-291 ◽  
Author(s):  
K. Huppi ◽  
D. Siwarski ◽  
J. Shaughnessy ◽  
M. J. Klemsz ◽  
M. Shirakata ◽  
...  

Genetics ◽  
1989 ◽  
Vol 122 (3) ◽  
pp. 669-679
Author(s):  
L D Siracusa ◽  
A M Buchberg ◽  
N G Copeland ◽  
N A Jenkins

Abstract Recombinant inbred strain and interspecific backcross mice were used to create a molecular genetic linkage map of the distal portion of mouse chromosome 2. The orientation and distance of the Ada, Emv-13, Emv-15, Hck-1, Il-1a, Pck-1, Psp, Src-1 and Svp-1 loci from the beta 2-microglobulin locus and the agouti locus were established. Our mapping results have provided the identification of molecular markers both proximal and distal to the agouti locus. The recombinants obtained provide valuable resources for determining the direction of chromosome walking experiments designed to clone sequences at the agouti locus. Comparisons between the mouse and human genome maps suggest that the human homolog of the agouti locus resides on human chromosome 20q. Three loci not present on mouse chromosome 2 were also identified and were provisionally named Psp-2, Hck-2 and Hck-3. The Psp-2 locus maps to mouse chromosome 14. The Hck-2 locus maps near the centromere of mouse chromosome 4 and may identify the Lyn locus. The Hck-3 locus maps near the distal end of mouse chromosome 4 and may identify the Lck locus.


2002 ◽  
Vol 30 (6) ◽  
pp. 564-570 ◽  
Author(s):  
Kanokporn Rithidech ◽  
John J Dunn ◽  
Bruce A Roe ◽  
Chris R Gordon ◽  
Eugene P Cronkite

1992 ◽  
Vol 3 (11) ◽  
pp. 633-636 ◽  
Author(s):  
Alison Pilz ◽  
Paul Le Tissier ◽  
Heather Moseley ◽  
Jo Peters ◽  
Cathy Abbott

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Karolina Strzelec ◽  
Agata Dziedzic ◽  
Katarzyna Łazarz-Bartyzel ◽  
Aleksander M. Grabiec ◽  
Ewa Gutmajster ◽  
...  

Abstract Background Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues, to severe resulting in diastemas or malposition of teeth. Both, autosomal-dominant and autosomal-recessive forms of HGF are described. The aim of this review is a clinical overview, as well as a summary and discussion of the involvement of candidate chromosomal regions, pathogenic variants of genes, and candidate genes in the pathogenesis of HGF. The loci related to non-syndromic HGF have been identified on chromosome 2 (GINGF, GINGF3), chromosome 5 (GINGF2), chromosome 11 (GINGF4), and 4 (GINGF5). Of these loci, pathogenic variants of the SOS-1 and REST genes inducing HGF have been identified in the GINGF and the GINGF5, respectively. Furthermore, among the top 10 clusters of genes ranked by enrichment score, ATP binding, and fibronectin encoding genes were proposed as related to HGF. Conclusion The analysis of clinical reports as well as translational genetic studies published since the late’90s indicate the clinical and genetic heterogeneity of non-syndromic HGF and point out the importance of genetic studies and bioinformatics of more numerous unrelated families to identify novel pathogenic variants potentially inducing HGF. This strategy will help to unravel the molecular  mechanisms as well as uncover specific targets for novel and less invasive therapies of this rare, orphan condition.


1998 ◽  
Vol 8 (S1) ◽  
pp. S27-S49 ◽  
Author(s):  
Josephine Peters ◽  
Linda D. Siracusa ◽  
Daniel Pomp ◽  
Aamir R. Zuberi ◽  
Deanna Church ◽  
...  

1997 ◽  
Vol 7 (S1) ◽  
pp. S28-S44 ◽  
Author(s):  
Linda D. Siracusa ◽  
Catherine M. Abbott ◽  
Judith L. Morgan ◽  
Aamir R. Zuberi ◽  
Daniel Pomp ◽  
...  

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