Sequence organization of the human chromosome 2q telomere

The terminal 240 kb of a human 2q telomere region was cloned in two overlapping yeast artificial-chromosomes (YACs). This DNA contains a region of low-copy subtelomeric repeats (within 50 kb of the 2q telomere), a segment of DNA duplicated on distal 8p23 (100 kb from the 2q telomere), and a region o...

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Veröffentlicht in:	Human molecular genetics 1994-10, Vol.3 (10), p.1847-1853
Hauptverfasser:	Macina, Roberto A., Negorev, Dmitri G., Spais, Chrysanthe, Ruthig, Lisa A., Hu, Xue-Lan, Riethman, Harold C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biological and medical sciences chromosome 2 Chromosome Banding Chromosome Mapping Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 2 Classical genetics, quantitative genetics, hybrids DNA DNA Primers duplication Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Human Humans In Situ Hybridization, Fluorescence man Molecular Sequence Data Polymerase Chain Reaction Repetitive Sequences, Nucleic Acid Restriction Mapping Telomere telomeres
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Zusammenfassung:	The terminal 240 kb of a human 2q telomere region was cloned in two overlapping yeast artificial-chromosomes (YACs). This DNA contains a region of low-copy subtelomeric repeats (within 50 kb of the 2q telomere), a segment of DNA duplicated on distal 8p23 (100 kb from the 2q telomere), and a region of single-copy DNA (230 kb from the 2q telomere). Two CpG islands are present in the DNA segment duplicated on distal 8p23. RecA-assisted restriction endonuclease cleavage of genomic DNA samples revealed a potential 55 kb chromosome length polymorphism at the 2q telomere. This work provides telomeric closure of maps for human chromosome 2q, demonstrates a novel, subtelomere-specific DNA duplication, and will permit detailed molecular and cytological studies of this human telomere region.
ISSN:	0964-6906 1460-2083
DOI:	10.1093/hmg/3.10.1847