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

Research output: Contribution to journalArticle

141 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)595-606
Number of pages12
JournalCell
Volume64
Issue number3
DOIs
StatePublished - Feb 8 1991
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 16
Human Chromosomes
Chromosomes
Polymorphism
Globins
Telomere
Alleles
Genes
Genetic Loci

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

Wilkie, A. O. M., Higgs, D. R., Rack, K. A., Buckle, V. J., Spurr, N. K., Fischel-Ghodsian, N., ... Harris, P. C. (1991). Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell, 64(3), 595-606. https://doi.org/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. / Wilkie, Andrew O M; Higgs, Douglas R.; Rack, Katrina A.; Buckle, Veronica J.; Spurr, Nigel K.; Fischel-Ghodsian, Nathan; Ceccherini, Isabella; Brown, William R A; Harris, Peter C.

In: Cell, Vol. 64, No. 3, 08.02.1991, p. 595-606.

Research output: Contribution to journalArticle

Wilkie, AOM, Higgs, DR, Rack, KA, Buckle, VJ, Spurr, NK, Fischel-Ghodsian, N, Ceccherini, I, Brown, WRA & Harris, PC 1991, 'Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16', Cell, vol. 64, no. 3, pp. 595-606. https://doi.org/10.1016/0092-8674(91)90243-R
Wilkie AOM, Higgs DR, Rack KA, Buckle VJ, Spurr NK, Fischel-Ghodsian N et al. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell. 1991 Feb 8;64(3):595-606. https://doi.org/10.1016/0092-8674(91)90243-R
Wilkie, Andrew O M ; Higgs, Douglas R. ; Rack, Katrina A. ; Buckle, Veronica J. ; Spurr, Nigel K. ; Fischel-Ghodsian, Nathan ; Ceccherini, Isabella ; Brown, William R A ; Harris, Peter C. / Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. In: Cell. 1991 ; Vol. 64, No. 3. pp. 595-606.
@article{92c2e8aa6b71468dadc6f9da9716b184,
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}",
year = "1991",
month = "2",
day = "8",
doi = "10.1016/0092-8674(91)90243-R",
language = "English (US)",
volume = "64",
pages = "595--606",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "3",

}

TY - JOUR

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

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.

UR - http://www.scopus.com/inward/record.url?scp=0026085703&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026085703&partnerID=8YFLogxK

U2 - 10.1016/0092-8674(91)90243-R

DO - 10.1016/0092-8674(91)90243-R

M3 - Article

C2 - 1991321

AN - SCOPUS:0026085703

VL - 64

SP - 595

EP - 606

JO - Cell

JF - Cell

SN - 0092-8674

IS - 3

ER -