Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: Implications for X-linked hypophosphatemia

Fayez K Ghishan, S. Knobel, M. Dasuki, M. Butler, J. Phillips

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Hypophosphatemic vitamin D-resistant rickets, an X-linked dominant disorder, is the most common form of vitamin D-resistant rickets in humans (McKusick number 307800). Biochemically, these patients exhibit hypophosphatemia due to a defect in the renal tubular reabsorption of phosphate. The human cDNA encoding for the renal phosphate transporter has been recently cloned using the expression system in the Xenopus laevis oocytes. Because hypophosphatemic vitamin D-resistant rickets has an X- linked mode of transmission, we hypothesized that the gene encoding the renal phosphate transporter might map to the X chromosome. In this report, we determined the chromosomal localization of the human renal phosphate transporter using three independent methods. First, DNA from somatic cell hybrid panels was examined by Southern blotting for the phosphate transporter. Second, the polymerase chain reaction was used to amplify DNA from somatic cell hybrids. Third, fluorescent in situ hybridization was used to sublocalize the renal phosphate transporter. All three methods localized the renal phosphate transporter to chromosome 5q13. Our results indicate that either derangement of a gene other than the phosphate transporter gene that is encoded on chromosome 5 is responsible for X-linked hypophosphatemic rickets or, alternatively, a gene encoded on the X chromosome has an epistatic effect on the expression of the renal phosphate transporter on chromosome 5.

Original languageEnglish (US)
Pages (from-to)510-513
Number of pages4
JournalPediatric Research
Volume35
Issue number4 I
StatePublished - 1994
Externally publishedYes

Fingerprint

Sodium-Phosphate Cotransporter Proteins
Familial Hypophosphatemic Rickets
Phosphate Transport Proteins
Chromosomes, Human, Pair 5
Kidney
Hypophosphatemic Rickets
Hybrid Cells
X Chromosome
Genes
Hypophosphatemia
DNA
Xenopus laevis
Southern Blotting
Fluorescence In Situ Hybridization
Oocytes
Complementary DNA
Chromosomes
Phosphates

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5 : Implications for X-linked hypophosphatemia. / Ghishan, Fayez K; Knobel, S.; Dasuki, M.; Butler, M.; Phillips, J.

In: Pediatric Research, Vol. 35, No. 4 I, 1994, p. 510-513.

Research output: Contribution to journalArticle

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