Literature DB >> 10598570

Homozygotes for FRA16B are normal.

T Hocking1, W Feichtinger, M Schmid, E A Haan, E Baker, G R Sutherland.   

Abstract

Homozygotes for the rare folate-sensitive autosomal fragile sites have never been recorded. Two non-folate-sensitive rare fragile sites (FRA10B and FRA17A) have been previously recorded in normal individuals. We document two unrelated normal individuals who are homozygotes for the rare fragile site FRA16B and record the patterns of induction of this fragile site with berenil. The existence of normal homozygotes for FRA16B suggests that this fragile site is not within a gene essential for normal development.

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Year:  1999        PMID: 10598570     DOI: 10.1023/a:1009293613064

Source DB:  PubMed          Journal:  Chromosome Res        ISSN: 0967-3849            Impact factor:   5.239


  8 in total

Review 1.  Chromosomal fragile sites.

Authors:  G R Sutherland
Journal:  Genet Anal Tech Appl       Date:  1991-09

2.  Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat.

Authors:  S Yu; M Mangelsdorf; D Hewett; L Hobson; E Baker; H J Eyre; N Lapsys; D Le Paslier; N A Doggett; G R Sutherland; R I Richards
Journal:  Cell       Date:  1997-02-07       Impact factor: 41.582

3.  The fragile site (16) (q22). I. Induction by AT-specific DNA-ligands and population frequency.

Authors:  M Schmid; W Feichtinger; A Jessberger; J Köhler; R Lange
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

4.  A homozygous chromosomal variant.

Authors:  J M Berg; J A Faunch; M J Pendrey; L S Penrose; M A Ridler; A Shapiro
Journal:  Lancet       Date:  1969-03-08       Impact factor: 79.321

5.  Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE.

Authors:  J E Parrish; B A Oostra; A J Verkerk; C S Richards; J Reynolds; A S Spikes; L G Shaffer; D L Nelson
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

6.  Unusual behaviour of a human autosome having two rare folate sensitive fragile sites.

Authors:  G R Sutherland; E Baker
Journal:  Ann Genet       Date:  1993

7.  Heritable fragile sites on human chromosomes. VII. Children homozygous for the BrdU-requiring fra(10)(q25) are phenotypically normal.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025

8.  FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.

Authors:  D R Hewett; O Handt; L Hobson; M Mangelsdorf; H J Eyre; E Baker; G R Sutherland; S Schuffenhauer; J I Mao; R I Richards
Journal:  Mol Cell       Date:  1998-05       Impact factor: 17.970

  8 in total
  1 in total

Review 1.  Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.

Authors:  Terence Gall-Duncan; Nozomu Sato; Ryan K C Yuen; Christopher E Pearson
Journal:  Genome Res       Date:  2021-12-29       Impact factor: 9.438

  1 in total

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