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 | |
| State | Published - Feb 8 1991 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Cell Biology
- Molecular Biology
Cite this
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 journal › Article
}
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 -