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Literature DB >> 2339111

Long-range restriction map of the terminal part of the short arm of the human X chromosome.

Abstract

The terminal part of the short arm of the human X chromosome has been mapped by pulsed-field gel electrophoresis (PFGE). The map, representing the distal two-thirds of Xp22.3 spans a total of 10,000 kilobases (kb) from Xpter to the DXS143 locus. A comparison with linkage data indicates that 1 centimorgan (cM) in this region corresponds to about 600 kb. CpG islands were essentially concentrated in the 1500 kb immediately proximal to the pseudoautosomal boundary. Several loci, including the gene encoding steroid sulfatase (STS) and the loci for the X-linked recessive form of chondrodysplasia punctata (CDPX) and for Kallmann syndrome (KAL) have been placed relative to the Xp telomere. CDPX is located between 2650 and 5550 kb from Xpter, and STS is located between 7250 and 7830 kb from Xpter. KAL maps to an interval of 350 kb between 8600 and 8950 kb from the telomere. The X-chromosomal breakpoints of a high proportion of XX males resulting from X-Y interchange cluster to a 920-kb region proximal and close to the pseudoautosomal boundary.

Entities: Disease Gene Species

Mesh：

Year: 1990 PMID： 2339111 PMCID： PMC53966 DOI： 10.1073/pnas.87.10.3680

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

38 in total

1. An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

Authors: W Middlesworth; C Bertelson; L M Kunkel
Journal: Nucleic Acids Res Date: 1985-08-12 Impact factor: 16.971

2. Identification and isolation of transcribed human X chromosome DNA sequences.

Authors: L M Kunkel; U Tantravahi; D M Kurnit; M Eisenhard; G P Bruns; S A Latt
Journal: Nucleic Acids Res Date: 1983-11-25 Impact factor: 16.971

3. Genetic homology and crossing over in the X and Y chromosomes of Mammals.

Authors: P S Burgoyne
Journal: Hum Genet Date: 1982 Impact factor: 4.132

4. Differential expression of steroid sulphatase locus on active and inactive human X chromosome.

Authors: B R Migeon; L J Shapiro; R A Norum; T Mohandas; J Axelman; R L Dabora
Journal: Nature Date: 1982-10-28 Impact factor: 49.962

5. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

Authors: C J Curry; R E Magenis; M Brown; J T Lanman; J Tsai; P O'Lague; P Goodfellow; T Mohandas; E A Bergner; L J Shapiro
Journal: N Engl J Med Date: 1984-10-18 Impact factor: 91.245

6. Non-inactivation of an x-chromosome locus in man.

Authors: L J Shapiro; T Mohandas; R Weiss; G Romeo
Journal: Science Date: 1979-06-15 Impact factor: 47.728

7. The cell surface antigen locus, MIC2X, escapes X-inactivation.

Authors: P Goodfellow; B Pym; T Mohandas; L J Shapiro
Journal: Am J Hum Genet Date: 1984-07 Impact factor: 11.025

8. X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele.

Authors: E Keitges; M Rivest; M Siniscalco; S M Gartler
Journal: Nature Date: 1985 May 16-22 Impact factor: 49.962

9. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.

Authors: L Tiepolo; O Zuffardi; M Fraccaro; D di Natale; L Gargantini; C R Müller; H H Ropers
Journal: Hum Genet Date: 1980 Impact factor: 4.132

10. An interspersed repeated sequence specific for human subtelomeric regions.

Authors: F Rouyer; A de la Chapelle; M Andersson; J Weissenbach
Journal: EMBO J Date: 1990-02 Impact factor: 11.598

18 in total

1. Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.

Authors: A A Bergen; C Samanns; E J Schuurman; L van Osch; D B van Dorp; A J Pinckers; E Bakker; A Gal; G J van Ommen; E M Bleeker-Wagemakers
Journal: Hum Genet Date: 1991-12 Impact factor: 4.132

2. Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.

Authors: T Ogata; P Goodfellow; C Petit; M Aya; N Matsuo
Journal: J Med Genet Date: 1992-07 Impact factor: 6.318

3. A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3).

Authors: P M Bouloux; J P Hardelin; P Munroe; J M Kirk; R Legouis; J Levilliers; J Hazan; J Weissenbach; C Petit
Journal: Nucleic Acids Res Date: 1991-10-11 Impact factor: 16.971

4. A multipoint linkage map of the distal short arm of the human X chromosome.

Authors: C L Johnson; P Charmley; P H Yen; L J Shapiro
Journal: Am J Hum Genet Date: 1991-08 Impact factor: 11.025

5. X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.

Authors: L Van Maldergem; M Espeel; F Roels; C Petit; G Dacremont; R J Wanders; A Verloes; Y Gillerot
Journal: Hum Genet Date: 1991-10 Impact factor: 4.132

6. Generation of sequence-tagged sites from Xp22.3 by isolating common Alu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments.

Authors: I A Glass; M Passage; L Bernatowicz; E C Salido; T Mohandas; P H Yen; L J Shapiro
Journal: Hum Genet Date: 1996-05 Impact factor: 4.132

Review 10. Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Authors: M I Stamou; K H Cox; William F Crowley
Journal: Endocr Rev Date: 2016-02 Impact factor: 19.871