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Literature DB >> 8431636

Partial inversion of gene order within a homologous segment on the X chromosome.

Abstract

The locus for the erthyroid transcription factor, GATA1, has been positioned in the small interval between DXS255 and TIMP on the proximal short arm of the human X Chromosome (Chr) by use of a partial human cDNA clone and a well-characterized somatic cell hybrid panel. Analysis of selected recombinants from 108 Mus musculus x Mus spretus backcross progeny with the same clone confirmed that the homologous murine locus (Gf-1) lies between Otc and the centromere of the mouse X Chr. These data imply that a partial inversion of gene order has occurred within the conserved segment that represents Xp21.1-Xp11.23 in human (CYBB-GATA1) and the proximal 6 cM of the mouse X Chr (Gf-1-Timp). Furthermore, they indicate that the mouse mutant scurfy and the human genetic disorder Wiskott-Aldrich syndrome, which have been mapped to the same regions as GATA1/Gf-1 in both species, may indeed be homologous disorders.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1993 PMID： 8431636 DOI： 10.1007/bf00290437

Source DB: PubMed Journal: Mamm Genome ISSN： 0938-8990 Impact factor: 2.957

29 in total

1. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

Authors: R A ALDRICH; A G STEINBERG; D C CAMPBELL
Journal: Pediatrics Date: 1954-02 Impact factor: 7.124

2. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.

Authors: B Royer-Pokora; L M Kunkel; A P Monaco; S C Goff; P E Newburger; R L Baehner; F S Cole; J T Curnutte; S H Orkin
Journal: Nature Date: 1986 Jul 3-9 Impact factor: 49.962

3. Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor.

Authors: D I Martin; S F Tsai; S H Orkin
Journal: Nature Date: 1989-03-30 Impact factor: 49.962

4. An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes.

Authors: T Evans; M Reitman; G Felsenfeld
Journal: Proc Natl Acad Sci U S A Date: 1988-08 Impact factor: 11.205

5. Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.

Authors: A Sefiani; D Sinnett; L Abel; S Szpiro-Tapia; S Heuertz; I Craig; N Fraser; T A Kruse; M Frydman; M O Peter
Journal: Hum Genet Date: 1988-11 Impact factor: 4.132

6. Characterization of the translocation between chromosomes X and 18 in human synovial sarcomas.

Authors: B R Reeves; S Smith; C Fisher; W Warren; J Knight; C Martin; A M Chan; B A Gusterson; G Westbury; C S Cooper
Journal: Oncogene Date: 1989-03 Impact factor: 9.867

7. Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.

Authors: Y Boyd; D Cockburn; S Holt; E Munro; G J Van Ommen; B Gillard; N Affara; M Ferguson-Smith; I Craig
Journal: Cytogenet Cell Genet Date: 1988

8. Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1.

Authors: L Pevny; M C Simon; E Robertson; W H Klein; S F Tsai; V D'Agati; S H Orkin; F Costantini
Journal: Nature Date: 1991-01-17 Impact factor: 49.962

9. Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse.

Authors: L C Amar; L Dandolo; A Hanauer; A R Cook; D Arnaud; J L Mandel; P Avner
Journal: Genomics Date: 1988-04 Impact factor: 5.736

Partial inversion of gene order within a homologous segment on the X chromosome.

1. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

2. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.

3. Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor.

4. An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes.

5. Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.

6. Characterization of the translocation between chromosomes X and 18 in human synovial sarcomas.

7. Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.

8. Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1.

9. Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse.

10. Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23.

1. Comparative mapping of X chromosomes in vole species of the genus Microtus.

2. Genetic analyses of tattered, an X-linked dominant, developmental mouse mutation.

3. Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).

Review 4. Mouse homologues of human hereditary disease.

5. The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X chromosome.

6. A putative human equivalent of the murine Xlr (X-linked, lymphocyte-regulated) protein.