X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome
نویسندگان
چکیده
منابع مشابه
Consequences of Spermine Synthase or Spermidine/Spermine N- Acetyltransferase Deficiency in Polyamine Metabolism
A vast number of studies have linked polyamines to numerous cellular functions but less is known about the possible physiological functions of the individual polyamines. The specific gene targeting technique has provided a new potential way to resolve this mystery. We generated two separate embryonic stem (ES) cell lines where either spermine synthase gene (SPMSy) or spermidine/spermine N-acety...
متن کاملSpermine deficiency in Gy mice caused by deletion of the spermine synthase gene.
Two mouse mutations gyro (Gy) and hypophosphatemia (Hyp) are mouse models for X-linked hypophosphatemic rickets and have been shown to be deleted for the 5' and 3' end of the mouse homolog of PHEX (phosphate regulating gene with homologies to endopeptidases on the X chromosome; formerly called PEX), respectively. In addition to the metabolic disorder observed in Hyp mice, male Gy mice are steri...
متن کاملEnzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
Recently, the human gene encoding erythroid-specific delta-aminolevulinate synthase was localized to the chromosomal region Xp21-Xq21, identifying this gene as the logical candidate for the enzymatic defect causing "X-linked" sideroblastic anemia. To investigate this hypothesis, the 11 exonic coding regions of the delta-aminolevulinate synthase gene were amplified and sequenced from a 30-year-o...
متن کاملNew SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome (OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and ex...
متن کاملImpaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
BACKGROUND Snyder-Robinson Syndrome (SRS) is an X-linked intellectual disability disorder also characterized by osteoporosis, scoliosis, and dysmorphic facial features. It is caused by mutations in SMS, a ubiquitously expressed gene encoding the polyamine biosynthetic enzyme spermine synthase. We hypothesized that the tissue specificity of SRS arises from differential sensitivity to spermidine ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2003
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201072