Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

Andrew O.M. Wilkie; Douglas R. Higgs; Katrina A. Rack; Veronica J. Buckle; Nigel K. Spurr; Nathan Fischel-Ghodsian; Isabella Ceccherini; William R.A. Brown; Peter C. Harris

doi:10.1016/0092-8674(91)90243-R

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

Andrew O.M. Wilkie, Douglas R. Higgs, Katrina A. Rack, Veronica J. Buckle, Nigel K. Spurr, Nathan Fischel-Ghodsian, Isabella Ceccherini, William R.A. Brown, Peter C. Harris

Nephrology and Hypertension

Research output: Contribution to journal › Article › peer-review

143 Scopus citations

Abstract

We have completed a long-range restriction map of the terminal region of the short arm of human chromosome 16 (16p13.3) by physically linking a distal genetic locus (α-globin) with two recently isolated probes to telomere-associated repeats (TelBam3.4 and TelBam11). Comparison of 47 chromosomes has revealed major polymorphic length variation in this region: we have Identified three alleles in which the α-globin genes lie 170 kb, 350 kb, or 430 kb from the telomere. The two most common alleles contain different terminal segments, starting 145 kb distal to the α-globin genes. Beyond this boundary these alleles are non-homologous, yet each contains sequences related to other (different) chromosome termini. This chromosome size polymorphism has probably arisen by occasional exchanges between the subtelomeric regions of nonhomologous chromosomes; analogous length variation is likely to be present at other human telomeres.

Original language	English (US)
Pages (from-to)	595-606
Number of pages	12
Journal	Cell
Volume	64
Issue number	3
DOIs	https://doi.org/10.1016/0092-8674(91)90243-R
State	Published - Feb 8 1991

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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title = "Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16",

abstract = "We have completed a long-range restriction map of the terminal region of the short arm of human chromosome 16 (16p13.3) by physically linking a distal genetic locus (α-globin) with two recently isolated probes to telomere-associated repeats (TelBam3.4 and TelBam11). Comparison of 47 chromosomes has revealed major polymorphic length variation in this region: we have Identified three alleles in which the α-globin genes lie 170 kb, 350 kb, or 430 kb from the telomere. The two most common alleles contain different terminal segments, starting 145 kb distal to the α-globin genes. Beyond this boundary these alleles are non-homologous, yet each contains sequences related to other (different) chromosome termini. This chromosome size polymorphism has probably arisen by occasional exchanges between the subtelomeric regions of nonhomologous chromosomes; analogous length variation is likely to be present at other human telomeres.",

author = "Wilkie, {Andrew O.M.} and Higgs, {Douglas R.} and Rack, {Katrina A.} and Buckle, {Veronica J.} and Spurr, {Nigel K.} and Nathan Fischel-Ghodsian and Isabella Ceccherini and Brown, {William R.A.} and Harris, {Peter C.}",

note = "Funding Information: We thank Janette Lamb, Bill Wood, and Nikki Barton for hybrids, Helena Ayyub and Sandra McKeown for technical assistance, Richard Gibbons for commenting on the manuscript, Mark Vickers for unpublished data, Paresh Vyas for unpublished data and for commenting on the manuscript, Liz Rose for typing, and Sir David Weatherall for support. This work was funded by the Medical Reseamh Council, the Wellcome Trust, and Action Research for the Crippled Child.",

year = "1991",

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doi = "10.1016/0092-8674(91)90243-R",

language = "English (US)",

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T1 - Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

AU - Wilkie, Andrew O.M.

AU - Higgs, Douglas R.

AU - Rack, Katrina A.

AU - Buckle, Veronica J.

AU - Spurr, Nigel K.

AU - Fischel-Ghodsian, Nathan

AU - Ceccherini, Isabella

AU - Brown, William R.A.

AU - Harris, Peter C.

N1 - Funding Information: We thank Janette Lamb, Bill Wood, and Nikki Barton for hybrids, Helena Ayyub and Sandra McKeown for technical assistance, Richard Gibbons for commenting on the manuscript, Mark Vickers for unpublished data, Paresh Vyas for unpublished data and for commenting on the manuscript, Liz Rose for typing, and Sir David Weatherall for support. This work was funded by the Medical Reseamh Council, the Wellcome Trust, and Action Research for the Crippled Child.

PY - 1991/2/8

Y1 - 1991/2/8

N2 - We have completed a long-range restriction map of the terminal region of the short arm of human chromosome 16 (16p13.3) by physically linking a distal genetic locus (α-globin) with two recently isolated probes to telomere-associated repeats (TelBam3.4 and TelBam11). Comparison of 47 chromosomes has revealed major polymorphic length variation in this region: we have Identified three alleles in which the α-globin genes lie 170 kb, 350 kb, or 430 kb from the telomere. The two most common alleles contain different terminal segments, starting 145 kb distal to the α-globin genes. Beyond this boundary these alleles are non-homologous, yet each contains sequences related to other (different) chromosome termini. This chromosome size polymorphism has probably arisen by occasional exchanges between the subtelomeric regions of nonhomologous chromosomes; analogous length variation is likely to be present at other human telomeres.

AB - We have completed a long-range restriction map of the terminal region of the short arm of human chromosome 16 (16p13.3) by physically linking a distal genetic locus (α-globin) with two recently isolated probes to telomere-associated repeats (TelBam3.4 and TelBam11). Comparison of 47 chromosomes has revealed major polymorphic length variation in this region: we have Identified three alleles in which the α-globin genes lie 170 kb, 350 kb, or 430 kb from the telomere. The two most common alleles contain different terminal segments, starting 145 kb distal to the α-globin genes. Beyond this boundary these alleles are non-homologous, yet each contains sequences related to other (different) chromosome termini. This chromosome size polymorphism has probably arisen by occasional exchanges between the subtelomeric regions of nonhomologous chromosomes; analogous length variation is likely to be present at other human telomeres.

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Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

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