Literature DB >> 7668265

A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.

J L Blouin1, D H Christie, A Gos, A Lynn, M A Morris, D H Ledbetter, A Chakravarti, S E Antonarakis.   

Abstract

We have used a half-YAC containing the human chromosome 21 long-arm telomere to clone, map, and characterize a new dinucleotide repeat polymorphism (D21S1575) close to 21qter. This marker is < 120 kb from the telomeric (TTAGGG)n sequences and is the most distal highly polymorphic marker on chromosome 21q. This marker has a heterozygosity of 71% because of a variable (TA)n repeat embedded within a long interspersed element (LINE) element. Genotyping of the CEPH families and linkage analysis provided a more accurate determination of the full length of the chromosome 21 genetic map. A highly significant difference was detected between male and female recombination rates in the telomeric region: in the most telomeric 2.3 Mb of chromosome 21q, recombination was only observed in male meioses.

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Mesh：

Year:  1995        PMID： 7668265      PMCID： PMC1801529     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  30 in total

1.  A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes.

Authors:  R K Moyzis; J M Buckingham; L S Cram; M Dani; L L Deaven; M D Jones; J Meyne; R L Ratliff; J R Wu
Journal:  Proc Natl Acad Sci U S A       Date:  1988-09       Impact factor: 11.205

2.  Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome.

Authors:  A C Warren; A Chakravarti; C Wong; S A Slaugenhaupt; S L Halloran; P C Watkins; C Metaxotou; S E Antonarakis
Journal:  Science       Date:  1987-08-07       Impact factor: 47.728

3.  Chiasma distribution at diakinesis in the normal human male.

Authors:  M Hultén
Journal:  Hereditas       Date:  1974       Impact factor: 3.271

4.  Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries.

Authors:  P Lichter; T Cremer; J Borden; L Manuelidis; D C Ward
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

5.  Structure of the terminal 300 kb of DNA from human chromosome 21q.

Authors:  J T Reston; X L Hu; R A Macina; C Spais; H C Riethman
Journal:  Genomics       Date:  1995-03-01       Impact factor: 5.736

6.  Molecular cloning of human telomeres in yeast.

Authors:  W R Brown
Journal:  Nature       Date:  1989-04-27       Impact factor: 49.962

7.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

Authors:  A O Wilkie; V J Buckle; P C Harris; J Lamb; N J Barton; S T Reeders; R H Lindenbaum; R D Nicholls; M Barrow; N C Bethlenfalvay
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

8.  The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

Authors:  E P Economou; A W Bergen; A C Warren; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

9.  Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms.

Authors:  J L Weber
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736

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
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  11 in total

1.  Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.

Authors:  X Liu; D F Barker
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

2.  A case of apparent trisomy 21 without the Down's syndrome phenotype.

Authors:  D Avramopoulos; I Kennerknecht; G Barbi; D Eckert; J M Delabar; C Maunoury; A Hallberg; M B Petersen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

3.  Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.

Authors:  U Radhakrishna; J L Blouin; H Mehenni; U C Patel; M N Patel; J V Solanki; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

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.  Characterization of physical gap sizes at human telomeres.

Authors:  C M Lese; J A Fantes; H C Riethman; D H Ledbetter
Journal:  Genome Res       Date:  1999-09       Impact factor: 9.043

6.  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

7.  The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Authors:  U Radhakrishna; D Bornholdt; H S Scott; U C Patel; C Rossier; H Engel; A Bottani; D Chandal; J L Blouin; J V Solanki; K H Grzeschik; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

8.  Molecular cytogenetic analysis of telomere rearrangements.

Authors:  Christa Lese Martin; David H Ledbetter
Journal:  Curr Protoc Hum Genet       Date:  2015-01-20

9.  Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

Authors:  H Mehenni; J L Blouin; U Radhakrishna; S S Bhardwaj; K Bhardwaj; V B Dixit; K F Richards; A Bermejo-Fenoll; A S Leal; R C Raval; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

10.  Age-dependent recombination rates in human pedigrees.

Authors:  Julie Hussin; Marie-Hélène Roy-Gagnon; Roxanne Gendron; Gregor Andelfinger; Philip Awadalla
Journal:  PLoS Genet       Date:  2011-09-01       Impact factor: 5.917
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