{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T11:22:23Z","timestamp":1694863343084},"reference-count":105,"publisher":"Hindawi Limited","issue":"2-3","license":[{"start":{"date-parts":[[2009,4,14]],"date-time":"2009-04-14T00:00:00Z","timestamp":1239667200000},"content-version":"unspecified","delay-in-days":6770,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genet. Res."],"published-print":{"date-parts":[[1990,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Several genes expressed in kidney and other tissues determine phosphate homeostasis in extracellular fluid. The major form of inherited hypophosphatemia in humans involves an X-linked locus (HPDR, Xp22.31-p21.3). It has two murine homologues (<jats:italic>Hyp<\/jats:italic>and<jats:italic>Gy<\/jats:italic>) which map to closely-linked but separate loci (crossover value 0\u00b74%\u20130\u00b78%). Both murine mutations impair Na<jats:sup>+<\/jats:sup>-phosphate cotransport in renal brush border membrane; an associated renal disorder of 1, 25-dihydroxyvitamin D<jats:sub>3<\/jats:sub>(1, 25(OH)<jats:sub>2<\/jats:sub>D) metabolism has been characterized in<jats:italic>Hyp<\/jats:italic>mice. Whereas experiments with cultured<jats:italic>Hyp<\/jats:italic>renal epithelium indicate that the gene is expressed in kidney, studies showing the development of the mutant renal phenotype in normal mice parabiosed to<jats:italic>Hyp<\/jats:italic>mice implicate a circulating factor; these findings can be reconciled if the humoral factor is of renal origin. The gene dose effect of HPDR,<jats:italic>Hyp<\/jats:italic>and<jats:italic>Gy<\/jats:italic>on serum phosphorus values is consistently deviant and heterozygotes resemble affected hemizygotes. The deviant effect is also seen on renal phosphate transport; all mutant females<jats:italic>(Hyp\/Hyp<\/jats:italic>and<jats:italic>Hyp<\/jats:italic>\/+) have similar phenotypes. On the other hand, there is a normal gene dose effect of HPDR in mineralized tissue; tooth PRATIO (pulp area\/tooth area) values for heterozygotes are distributed between those for affected males and normals. The tooth data imply that the X chromosome locus is expressed in both renal and non-renal cells. The polypeptide product of the X chromosome gene(s) is still unknown.<\/jats:p>","DOI":"10.1017\/s0016672300035229","type":"journal-article","created":{"date-parts":[[2009,9,17]],"date-time":"2009-09-17T07:30:40Z","timestamp":1253172640000},"page":"141-152","source":"Crossref","is-referenced-by-count":13,"title":["Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans"],"prefix":"10.1155","volume":"56","author":[{"given":"Charles R.","family":"Scriver","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harriet S.","family":"Tenenhouse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2009,4,14]]},"reference":[{"key":"S0016672300035229_ref084","first-page":"705","article-title":"Of mouse and man: The hypophosphataemic genes","volume":"64","author":"Smith","year":"1987","journal-title":"Quarterly Journal of Medicine"},{"key":"S0016672300035229_ref013","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1981.120"},{"key":"S0016672300035229_ref005","doi-asserted-by":"crossref","first-page":"3158","DOI":"10.1016\/S0021-9258(17)33513-5","article-title":"Stimulation of 25-hydroxyvitamin D3-1\u03b1-hydroxylase by phosphate depletion","volume":"251","author":"Baxter","year":"1976","journal-title":"Journal of Biological Chemistry"},{"key":"S0016672300035229_ref099","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113342"},{"key":"S0016672300035229_ref046","doi-asserted-by":"publisher","DOI":"10.1210\/endo-117-2-613"},{"key":"S0016672300035229_ref014","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00780.x"},{"key":"S0016672300035229_ref008","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4889(89)90113-4"},{"key":"S0016672300035229_ref069","first-page":"2581","volume-title":"The Metabolic Basis of Inherited Disease","author":"Rasmussen","year":"1989"},{"key":"S0016672300035229_ref077","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010111"},{"key":"S0016672300035229_ref021","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.34B2.266"},{"key":"S0016672300035229_ref090","doi-asserted-by":"publisher","DOI":"10.1210\/endo-115-2-634"},{"key":"S0016672300035229_ref092","doi-asserted-by":"publisher","DOI":"10.1210\/endo-117-5-1719"},{"key":"S0016672300035229_ref056","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/S0021-9258(18)85783-0","article-title":"Studies on experimental rickets. 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