Literature DB >> 7545974

Sequence organization of the human chromosome 2q telomere.

R A Macina1, D G Negorev, C Spais, L A Ruthig, X L Hu, H C Riethman.   

Abstract

The terminal 240 kb of a human 2q telomere region was cloned in two overlapping yeast artificial-chromosomes (YACs). This DNA contains a region of low-copy subtelomeric repeats (within 50 kb of the 2q telomere), a segment of DNA duplicated on distal 8p23 (100 kb from the 2q telomere), and a region of single-copy DNA (230 kb from the 2q telomere). Two CpG islands are present in the DNA segment duplicated on distal 8p23. RecA-assisted restriction endonuclease cleavage of genomic DNA samples revealed a potential 55 kb chromosome length polymorphism at the 2q telomere. This work provides telomeric closure of maps for human chromosome 2q, demonstrates a novel, subtelomere-specific DNA duplication, and will permit detailed molecular and cytological studies of this human telomere region.

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Year:  1994        PMID： 7545974     DOI： 10.1093/hmg/3.10.1847

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  23 in total

1.  Mapping and initial analysis of human subtelomeric sequence assemblies.

Authors:  Harold Riethman; Anthony Ambrosini; Carlos Castaneda; Jeffrey Finklestein; Xue-Lan Hu; Uma Mudunuri; Sheila Paul; Jun Wei
Journal:  Genome Res       Date:  2004-01       Impact factor: 9.043

2.  Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

Authors:  Richard J F L Lemmers; Mariëlle Wohlgemuth; Rune R Frants; George W Padberg; Eva Morava; Silvere M van der Maarel
Journal:  Am J Hum Genet       Date:  2004-10-04       Impact factor: 11.025

3.  Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

Authors:  J B Ravnan; J H Tepperberg; P Papenhausen; A N Lamb; J Hedrick; D Eash; D H Ledbetter; C L Martin
Journal:  J Med Genet       Date:  2005-09-30       Impact factor: 6.318

4.  Characterization of short tandem repeats from thirty-one human telomeres.

Authors:  M Rosenberg; L Hui; J Ma; H C Nusbaum; K Clark; L Robinson; L Dziadzio; P M Swain; T Keith; T J Hudson; L G Biesecker; J Flint
Journal:  Genome Res       Date:  1997-09       Impact factor: 9.043

5.  Differences in telomere length between homologous chromosomes in humans.

Authors:  J A Londoño-Vallejo; H DerSarkissian; L Cazes; G Thomas
Journal:  Nucleic Acids Res       Date:  2001-08-01       Impact factor: 16.971

6.  Position effect of human telomeric repeats on replication timing.

Authors:  R Ofir; A C Wong; H E McDermid; K L Skorecki; S Selig
Journal:  Proc Natl Acad Sci U S A       Date:  1999-09-28       Impact factor: 11.205

7.  Subtelomeric rearrangements in idiopathic mental retardation.

Authors:  Gopalrao V N Velagaleti; Sally S Robinson; Bobby M Rouse; Vijay S Tonk; Lillian H Lockhart
Journal:  Indian J Pediatr       Date:  2005-08       Impact factor: 1.967

8.  Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

Authors:  C D M van Karnebeek; C Koevoets; S Sluijter; E K Bijlsma; D F M C Smeets; E J Redeker; R C M Hennekam; J M N Hoovers
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

9.  Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.

Authors:  Y Ning; M Rosenberg; L G Biesecker; D H Ledbetter
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

10.  Human subtelomeric copy number variations.

Authors:  H Riethman
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636
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