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      Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

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          Abstract

          Hypergonadotropic ovarian dysgenesis (ODG) with normal karyotype is a heterogeneous condition that in some cases displays Mendelian recessive inheritance. By systematically searching for linkage in multiplex affected families, we mapped a locus for ODG to chromosome 2p. As the previously cloned follicle-stimulating hormone receptor (FSHR) gene had been assigned to 2p, we searched it for mutations. A C566T transition in exon 7 of FSHR predicting an Ala to Val substitution at residue 189 in the extracellular ligand-binding domain segregated perfectly with the disease phenotype. Expression of the gene in transfected cells demonstrated a dramatic reduction of binding capacity and signal transduction, but apparently normal ligand-binding affinity of the mutated receptor. We conclude that the mutation causes ODG in these families.

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          Most cited references 35

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          Single step method of RNA isolation by acid guanidium thiocyanate phenol chloroform extraction. Anal

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            A second-generation linkage map of the human genome.

            A linkage map of the human genome has been constructed based on the segregation analysis of 814 newly characterized polymorphic loci containing short tracts of (C-A)n repeats in a panel of DNAs from eight large families. Statistical linkage analysis placed 813 of the markers into 23 linkage groups corresponding to the 22 autosomes and the X chromosome; 605 show a heterozygosity above 0.7 and 553 could be ordered with odds ratios above 1,000:1. The distance spanned corresponds to approximately 90% of the estimated length of the human genome.
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              Hormonal control of gene expression in the ovary.

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                Author and article information

                Journal
                Cell
                Cell
                Elsevier BV
                00928674
                September 1995
                September 1995
                : 82
                : 6
                : 959-968
                Article
                10.1016/0092-8674(95)90275-9
                7553856
                © 1995

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