Diagrammatic representation of the evolutionary history of chromosome 17

Marker order arrangement in the studied species, from which the arrangements of the mammalian ancestor (MA) and primate ancestor (PA) were derived (see text). The black letters on the left of each chromosome refer to the panel of BAC probes used in FISH experiments and reported in Table 1. Letters on the (FCA) chromosome refer to BACs reported in Additional data file 2 obtained by library screening. E* and J1* indicate the cat probes obtained by library screenings and corresponding to human E and J1 probes. The hash symbol for (MUS) indicates the arrangement was derived from Zody . [13]. Letters in green or blue indicate BAC probes derived from literature data (see text for details). In red are additional BACs used to delimit the breakpoints or those that yielded duplicated signals. The time of divergence is reported near the arrow. The 'N' in the red circle indicates an evolutionary neocentromere. CJA, ; CMO, ; GGO, ; HA, hominoid ancestor; HSA, ; LLA, ; MMU, ; NWM, New World monkey; OWM, Old World monkey; PPY, ; PTR, . Red and green regions indicate human short and long arm respectively; black bands are the Giemsa cytobands of chromosome 17, letters in color reported further BAC probes used to refine breakpoints (see the text for details) and gray segments and numbers report the human chromosomes sharing sintenic association with chromosome 17.<p><b>Copyright information:</b></p><p>Taken from "Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication"</p><p>http://genomebiology.com/2008/9/2/R28</p><p>Genome Biology 2008;9(2):R28-R28.</p><p>Published online 7 Feb 2008</p><p>PMCID:PMC2374708.</p><p></p

Abstract overview of the chromosomal regions that were included and excluded from our analysis

<p><b>Copyright information:</b></p><p>Taken from "On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees"</p><p>http://genomebiology.com/2007/8/10/R230</p><p>Genome Biology 2007;8(10):R230-R230.</p><p>Published online 30 Oct 2007</p><p>PMCID:PMC2246304.</p><p></p> A colinear and an inverted chromosome are presented. The inversion in the rearranged chromosome is highlighted in red. For every chromosome, regions considered in this paper are labeled in black. Regions excluded from the main analysis (telomeres, centromeres and breakpoints (BKP)) are within boxes and labeled in red

Molecular cloning of the 5;15 translocation in case 1.

<p>A, magnified view of the chromosome 5 breakpoint boundary detected by array-CGH using a 244 K oligonucleotide-based whole-genome microarray. The shaded area indicates a loss in DNA copy number (deletion) detected by three oligonucleotide probes (green dots). Black dots represent probes with no changes in copy number (non-deleted region). B, whole chromosome view (left) and magnified view (right) of the chromosome 15 breakpoint boundaries detected by custom oligonucleotide-based 15q11-q13 microarray. The shaded areas indicate a deletion (majority of green dots) and a gain in DNA copy number (duplication) detected by red dots (see arrow). The area containing few widely spaced probes represents BP3, a large region containing paralogous sequences. The last deleted oligomer is at 26,210,153 bp within <i>HERC2</i>, corresponding to BP3; the duplicated region is between 26,996,914 (first duplicated) and 27,106,557 bp (last duplicated) with first normal oligomer at 27,108,882 bp just distal to BP3, within the <i>APBA2</i> gene. An arrowhead points to the two black spots possibly indicating a single copy region between the deletion and the duplication. C, schematic representation of the rearrangement showing the two chromosomes involved, the position and orientation of the duplicated region, and the location of the two junctions (arrows). D, DNA sequences spanning the chromosome 5 deletion/15 duplication junction (Jc1) aligned with the reference sequences. E, dot-plot diagram, made with PipMaker software <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-Schwartz1" target="_blank">[45]</a>, showing the relative location of the inverted chromosome 15 duplication boundaries (Jc1 and Jc2, arrows) and of the <i>GOLGA8E</i>-associated inverted low copy repeat. The duplicated portion is represented by an orange arrow box.</p

Physical map of the 15q11.2-q14 region.

<p>The six segmental duplication sites responsible for specific recurrent rearrangements in this region, known as BP1-6, are represented by black boxes. All genes in the region are shown. The position of the chromosome 15 breakpoints of the five translocation cases we have examined are represented by thin arrows. The positions of the eight translocation cases (MR1-8) described by Mignon-Ravix <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-MignonRavix1" target="_blank">[10]</a> are indicated by thick arrows.</p

Phenotype, karyotype and molecular characterization of the five cases with unbalanced translocations.

*<p>The minor cell line has been confirmed, by classical cytogenetics, in fibroblasts, with a similar mosaicism percentage (45, XX, der(15;18)(q13;q23)[83]-15/45, X, der (X;15)(q28;q13),-15<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-Carrozzo1" target="_blank">[3]</a>*).</p