TY - JOUR
T1 - An optimized set of human telomere clones for studying telomere integrity and architecture
AU - Knigh, Samantha J.L.
AU - Lese, Christa M.
AU - Precht, Kathrin S.
AU - Kuc, Julie
AU - Ning, Yi
AU - Lucas, Sarah
AU - Regan, Regina
AU - Brenan, Mary
AU - Nicod, Alison
AU - Lawrei, N. Martin
AU - Cardy, Donald L.N.
AU - Nguyen, Huy
AU - Hudson, Thomas J.
AU - Riethman, Harold C.
AU - Ledbetter, David H.
AU - Flint, Jonathan
N1 - Funding Information:
This work was supported in part by a National Research Service Award (1 F32 HG00174-01 to C.M.L.), through the National Human Genome Research Institute, and by grants from the March of Dimes (6-FY99-641 to D.H.L.), the National Institutes of Health (1-R01-HD36715-01 to D.H.L.), the Wellcome Trust (to J.F. and S.J.L.K.), Cytocell Ltd. (to J.F.), and Vysis, Inc. (to D.H.L.). The authors would like to thank Dr. Nicola Royle for the (TTAGGG) n plasmid and primers and Dr. Gilles Vergnaud for providing cosmids from 1p. The authors would also like to acknowledge Judith Fantes, Ph.D., for critical scientific discussions and Jessica Roseberry and Alyssa Gross for excellent technical assistance. D.H.L. serves as a consultant and member of the scientific advisory board for Vysis, Inc.
PY - 2000
Y1 - 2000
N2 - Telomere-specific clones are a valuable resource for the characterization of chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34 genomic clones, which were a known distance from the end of the chromosome (˜300 kb), and 7 clones corresponding to the most distal markers on the integrated genetic/physical map (1p, 5p, 6p, 9p, 12p, 15q, and 20q). Subsequently, this resource has been optimized and completed: the size of the genomic clones has been expanded to a target size of 100-200 kb, which is optimal for use in genome-scanning methodologies, and additional probes for the remaining seven telomeres have been identified. For each clone we give an associated mapped sequence-tagged site and provide distances from the telomere estimated using a combination of fiberFISH, interphase FISH, sequence analysis, and radiation-hybrid mapping. This updated set of telomeric clones is an invaluable resource for clinical diagnosis and represents an important contribution to genetic and physical mapping efforts aimed at telomeric regions.
AB - Telomere-specific clones are a valuable resource for the characterization of chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34 genomic clones, which were a known distance from the end of the chromosome (˜300 kb), and 7 clones corresponding to the most distal markers on the integrated genetic/physical map (1p, 5p, 6p, 9p, 12p, 15q, and 20q). Subsequently, this resource has been optimized and completed: the size of the genomic clones has been expanded to a target size of 100-200 kb, which is optimal for use in genome-scanning methodologies, and additional probes for the remaining seven telomeres have been identified. For each clone we give an associated mapped sequence-tagged site and provide distances from the telomere estimated using a combination of fiberFISH, interphase FISH, sequence analysis, and radiation-hybrid mapping. This updated set of telomeric clones is an invaluable resource for clinical diagnosis and represents an important contribution to genetic and physical mapping efforts aimed at telomeric regions.
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U2 - 10.1086/302998
DO - 10.1086/302998
M3 - Article
C2 - 10869233
AN - SCOPUS:0033851883
SN - 0002-9297
VL - 67
SP - 320
EP - 332
JO - American journal of human genetics
JF - American journal of human genetics
IS - 2
M1 - 62644
ER -