Literature DB >> 3479386

Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences.

D F Callen1, J C Mulley, E G Baker, G R Sutherland.   

Abstract

The parental origin of five X isochromosomes were determined using 11 DNA markers. The isochromosome was derived from a maternal X chromosome in three cases and from a paternal X chromosome in two. Unexpected heterozygosity was detected for the proximal Xp region in one individual in whom the i(Xq) chromosome was paternally derived. This was confirmed by in situ hybridisation. A mode of formation of isochromosomes by breakage and reunion between the sister chromatids of the arms of an X chromosome is proposed to account for this. Sister chromatid breakage and reunion can be considered as a significant mechanism for the origin of i(Xq) chromosomes.

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Year:  1987        PMID： 3479386     DOI： 10.1007/BF00284476

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Localization of the human haptoglobin genes distal to the fragile site at 16q22 using in situ hybridization.

Authors:  R N Simmers; I Stupans; G R Sutherland
Journal:  Cytogenet Cell Genet       Date:  1986

2.  Dicentric chromosomes and the inactivation of the centromere.

Authors:  E Therman; C Trunca; E M Kuhn; G E Sarto
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

3.  Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.

Authors:  H F Willard; M H Skolnick; P L Pearson; J L Mandel
Journal:  Cytogenet Cell Genet       Date:  1985

4.  A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence.

Authors:  J Schmidtke; J Arnemann; M Schmid; F Baum; A Mayerova; U Langenbeck; I Hansmann
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Morphology alone does not make an isochromosome.

Authors:  S M Schmutz; E Pinno
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

6.  Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism.

Authors:  L Y Hsu; S Paciuc; K David; S Cristian; R Moloshok; K Hirschhorn
Journal:  J Med Genet       Date:  1978-06       Impact factor: 6.318

7.  How do human isochromosomes arise?

Authors:  A de la Chapelle
Journal:  Cancer Genet Cytogenet       Date:  1982-02

8.  Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14.

Authors:  J C Mulley; A K Gedeon; K A Thorn; L J Bates; G R Sutherland
Journal:  Am J Med Genet       Date:  1987-06

9.  High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.

Authors:  B U Zabel; S L Naylor; A Y Sakaguchi; G I Bell; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1983-11       Impact factor: 11.205
  9 in total
  16 in total

1.  Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.

Authors:  D F Callen; H J Eyre; M L Ringenbergs; C J Freemantle; P Woodroffe; E A Haan
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

2.  Analysis of the origin of Turner's syndrome using polymorphic DNA probes.

Authors:  S A Loughlin; A Redha; J McIver; E Boyd; A Carothers; J M Connor
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

3.  Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Authors:  Stuart A Scott; Ninette Cohen; Tracy Brandt; Peter E Warburton; Lisa Edelmann
Journal:  Hum Mol Genet       Date:  2010-06-22       Impact factor: 6.150

4.  A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.

Authors:  I Lorda-Sanchez; F Binkert; M Maechler; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

5.  Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome.

Authors:  M Guttenbach; J Köhler; M Schmid
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

6.  Pericentromeric structure of human X "isochromosomes": evidence for molecular heterogeneity.

Authors:  C B Sharp; H M Bedford; H F Willard
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

7.  Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.

Authors:  M B Qumsiyeh; A Tomasi; M Taslimi
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

8.  The parental origin and mechanism of formation of three dicentric X chromosomes.

Authors:  M C Phelan; L A Prouty; R E Stevenson; P N Howard-Peebles; D C Page; C E Schwartz
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

9.  A regional localisation for an X-linked suppressor gene (XS) for the Lutheran blood group.

Authors:  J C Mulley; P C Norman; P Tippett; R W Beal
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

10.  Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.

Authors:  C Hydén-Granskog; R Salonen; H von Koskull
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132
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