Supplementary information

From the following article:

Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

Elena V. Linardopoulou, Eleanor M. Williams, Yuxin Fan, Cynthia Friedman, Janet M. Young & Barbara J. Trask

Nature 437, 94-100(1 September 2005)

doi:10.1038/nature04029

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Supplementary Methods

Detailed description of computational and experimental methods used in study and additional observations. (Includes references cited in Supplementary Tables S1-S11).

Supplmentary Tables S1-S11

Eleven supplementary tables, provided together in one pdf file.

Supplementary Figure S1

Diagram summarizing PCR analyses of a monochromosomal hybrid panel using 55 primer pairs distributed across subtelomeric regions. The results confirm block boundaries defined by available sequence and identify additional copies not yet represented in genome assembly.

Supplementary Figure S2

Diagram of an NAHR-medicated translocation leading to a homology breakpoint within subtelomeres.

Supplementary Figure S3

Diagram of one of three breakpoints with degenerate telomere repeats at the junction and undetermined mechanism.

Supplementary Figure S4

Diagram of deletion formed by non-allelic homologous recombination of Alu elements on either the same or different chromosomes.

Supplementary Figure S5

Multiple changes in the historical relationships among subtelomeric sequences are apparent in this diagram of the best matching pairs in 2-kbp windows across the multiple sequence alignment of a region shared by seven chromosomes.

Supplementary Figure S6

Close-up view of the gross disparity in subtelomeric content of two sequenced alleles of 16p.

Supplementary Figure S7

The distribution of the percent identity of all pairwise alignments of all subtelomeric blocks shows that most subtelomeric duplications are very recent.

Supplementary Figure S8

Diagram of the best match for each block in each subtelomeric contig illustrates the extensive regions created by recent exchange and their spatial arrangement.

Supplementary Data

Sequences of representative copies of each block in fasta format.

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