A New Dinucleotide Repeat Polymorphism at the Telomere of Chromosome 21q Reveals a Significant Difference Between Male and Female Rates of Recombination

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1995 Aug 1

PMID 7668265

Citations 11

Authors

J L Blouin

D H CHRISTIE

A Gos

A Lynn

M A Morris

D H Ledbetter

A Chakravarti

S E Antonarakis

Affiliations

Soon will be listed here.

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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References

Reston J, Hu X, Macina R, Spais C, Riethman H . Structure of the terminal 300 kb of DNA from human chromosome 21q. Genomics. 1995; 26(1):31-8. DOI: 10.1016/0888-7543(95)80079-2. View

Hulten M . Chiasma distribution at diakinesis in the normal human male. Hereditas. 1974; 76(1):55-78. DOI: 10.1111/j.1601-5223.1974.tb01177.x. View

Warren A, Chakravarti A, Wong C, Slaugenhaupt S, Halloran S, Watkins P . Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science. 1987; 237(4815):652-4. DOI: 10.1126/science.2955519. View

Moyzis R, Buckingham J, Cram L, Dani M, Deaven L, Jones M . A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc Natl Acad Sci U S A. 1988; 85(18):6622-6. PMC: 282029. DOI: 10.1073/pnas.85.18.6622. View

Lichter P, Cremer T, Borden J, Manuelidis L, Ward D . Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet. 1988; 80(3):224-34. DOI: 10.1007/BF01790090. View

Brown W . Molecular cloning of human telomeres in yeast. Nature. 1989; 338(6218):774-6. DOI: 10.1038/338774a0. View

Rouyer F, de la Chapelle A, Andersson M, Weissenbach J . An interspersed repeated sequence specific for human subtelomeric regions. EMBO J. 1990; 9(2):505-14. PMC: 551693. DOI: 10.1002/j.1460-2075.1990.tb08137.x. View

Economou E, Bergen A, Warren A, Antonarakis S . The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci U S A. 1990; 87(8):2951-4. PMC: 53811. DOI: 10.1073/pnas.87.8.2951. View

Wilkie A, Buckle V, Harris P, Lamb J, Barton N, Reeders S . Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet. 1990; 46(6):1112-26. PMC: 1683839. View

10.

Weber J . Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics. 1990; 7(4):524-30. DOI: 10.1016/0888-7543(90)90195-z. View

11.

Petersen M, Schinzel A, Binkert F, Tranebjaerg L, Mikkelsen M, Collins F . Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome. Am J Hum Genet. 1991; 48(1):65-71. PMC: 1682735. View

12.

Sherman S, Takaesu N, Freeman S, Grantham M, Phillips C, Blackston R . Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet. 1991; 49(3):608-20. PMC: 1683138. View

13.

Dombroski B, Mathias S, Nanthakumar E, Scott A, Kazazian Jr H . Isolation of an active human transposable element. Science. 1991; 254(5039):1805-8. DOI: 10.1126/science.1662412. View

14.

Antonarakis S, Petersen M, McInnis M, Adelsberger P, Schinzel A, Binkert F . The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet. 1992; 50(3):544-50. PMC: 1684265. View

15.

Saccone S, De Sario A, Della Valle G, Bernardi G . The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc Natl Acad Sci U S A. 1992; 89(11):4913-7. PMC: 49198. DOI: 10.1073/pnas.89.11.4913. View

16.

Ashley T, Ward D . A "hot spot" of recombination coincides with an interstitial telomeric sequence in the Armenian hamster. Cytogenet Cell Genet. 1993; 62(2-3):169-71. DOI: 10.1159/000133464. View

17.

Ashley T, Cacheiro N, Russell L, Ward D . Molecular characterization of a pericentric inversion in mouse chromosome 8 implicates telomeres as promoters of meiotic recombination. Chromosoma. 1993; 102(2):112-20. DOI: 10.1007/BF00356028. View

18.

Antonarakis S, Avramopoulos D, Blouin J, Talbot Jr C, Schinzel A . Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nat Genet. 1993; 3(2):146-50. DOI: 10.1038/ng0293-146. View

19.

McInnis M, Chakravarti A, Blaschak J, Petersen M, Sharma V, Avramopoulos D . A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics. 1993; 16(3):562-71. DOI: 10.1006/geno.1993.1231. View

20.

Hing A, Helms C, Donis-Keller H . VNTR and microsatellite polymorphisms within the subtelomeric region of 7q. Am J Hum Genet. 1993; 53(2):509-17. PMC: 1682362. View