Literature DB >> 2562819

Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

B R Migeon1, J Axelman, S Jan de Beur, D Valle, G A Mitchell, K N Rosenbaum.   

Abstract

Studies of five heterozygous females from three kindreds segregating incontinentia pigmenti indicate that cells expressing the mutation have been eliminated from skin fibroblast cultures and in varying degrees from hematopoietic tissues. Clonal analysis was carried out using G6PD variants and methylation patterns at the HPRT locus. Our results confirm X linkage in these families and suggest that selection against cells expressing mutations that are lethal to males in utero may help ameliorate the deleterious phenotype in carrier females.

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Year:  1989        PMID： 2562819      PMCID： PMC1715454     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  27 in total

1.  DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors:  R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal:  Proc Natl Acad Sci U S A       Date:  1963-09       Impact factor: 11.205

2.  The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization.

Authors:  A Harris; S Lankester; E Haan; J Beres; M Hulten; J Szollar; L Souttier; M Bobrow
Journal:  Clin Genet       Date:  1988-07       Impact factor: 4.438

3.  Differentiation of leukemia cells to polymorphonuclear leukocytes in patients with acute nonlymphocytic leukemia.

Authors:  E R Fearon; P J Burke; C A Schiffer; B A Zehnbauer; B Vogelstein
Journal:  N Engl J Med       Date:  1986-07-03       Impact factor: 91.245

4.  Expression of the gene defect in X-linked agammaglobulinemia.

Authors:  M E Conley; P Brown; A R Pickard; R H Buckley; D S Miller; W H Raskind; J W Singer; P J Fialkow
Journal:  N Engl J Med       Date:  1986-08-28       Impact factor: 91.245

5.  Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.

Authors:  J Dancis; P H Berman; V Jansen; M E Balis
Journal:  Life Sci       Date:  1968-06-15       Impact factor: 5.037

6.  Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

Authors:  S Gilgenkrantz; P Tridon; N Pinel-Briquel; J Beurey; M Weber
Journal:  Ann Genet       Date:  1985

7.  Clonal analysis using recombinant DNA probes from the X-chromosome.

Authors:  B Vogelstein; E R Fearon; S R Hamilton; A C Preisinger; H F Willard; A M Michelson; A D Riggs; S H Orkin
Journal:  Cancer Res       Date:  1987-09-15       Impact factor: 12.701

8.  Two cases of X/autosome translocation in females with incontinentia pigmenti.

Authors:  S V Hodgson; B Neville; R W Jones; C Fear; M Bobrow
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation.

Authors:  E R Fearon; J A Winkelstein; C I Civin; D M Pardoll; B Vogelstein
Journal:  N Engl J Med       Date:  1987-02-19       Impact factor: 91.245

10.  Incomplete X chromosome dosage compensation in chorionic villi of human placenta.

Authors:  B R Migeon; S F Wolf; J Axelman; D C Kaslow; M Schmidt
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205
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  20 in total

Review 1.  Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers.

Authors:  M C Lanasa; W A Hogge; E P Hoffman
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

2.  Monozygotic twins discordant for Aicardi syndrome.

Authors:  T Costa; W Greer; G Rysiecki; J R Buncic; P N Ray
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

3.  X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.

Authors:  A Harris; J Collins; D Vetrie; C Cole; M Bobrow
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

4.  Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.

Authors:  N Archidiacono; M Lerone; M Rocchi; M Anvret; T Ozcelik; U Francke; G Romeo
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

5.  Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28.

Authors:  E Pegoraro; J Whitaker; P Mowery-Rushton; U Surti; M Lanasa; E P Hoffman
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

6.  Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

Authors:  M Rocchi; N Archidiacono; A Rinaldi; G Filippi; G Bartolucci; G S Fancello; M Siniscalco
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

7.  Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

Authors:  M Wan; S S Lee; X Zhang; I Houwink-Manville; H R Song; R E Amir; S Budden; S Naidu; J L Pereira; I F Lo; H Y Zoghbi; N C Schanen; U Francke
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

8.  X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation?

Authors:  U Friedrich; M Warburg; A L Jørgensen
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

9.  Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.

Authors:  R Coleman; S A Genet; J I Harper; A O Wilkie
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

10.  X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?

Authors:  D Vetrie; F Flinter; M Bobrow; A Harris
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318
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