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Recent Segmental Duplications in the Human Genome
A method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence has the ability to detect duplications larger than 15 kilobases irrespective of copy number, location, or high sequence similarity.
Segmental duplications and copy-number variation in the human genome.
This study demonstrates that segmental duplications define hotspots of chromosomal rearrangement, likely acting as mediators of normal variation as well as genomic disease, and suggests that the consideration of genomic architecture can significantly improve the ascertainment of large-scale rearrangements.
Covariation of Synaptonemal Complex Length and Mammalian Meiotic Exchange Rates
Using recently developed immunofluorescence methodology to examine exchanges in human spermatocytes, remarkable variation in the rate of recombination within and among individuals is identified and this variation is linked to differences in the length of the synaptonemal complex.
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.
A combination of BAC-based and high-density customized oligonucleotide arrays were used to resolve the molecular basis of structural rearrangements and underscore the need for complete maps of genetic variation in duplication-rich regions of the genome.
Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15
A subset of patients with Angelman and Prader–Willi syndrome have apparently normal chromosomes of biparental origin, but abnormal DMA methylation at several loci within chromosome 15q11–13, and
A new human prostate carcinoma cell line, 22Rv1
Flow cytometric and cytogenetic analysis showed that this cell line represents one hyper DNA-diploid stem line with two clonal, evolved cytogenetics sublines, and like the parental C WR22 and CWR22R xenografts, thiscell line expresses prostate specific antigen.
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Using oligonucleotide arrays, the breakpoints of this microdeletion were refined, defining a 478-kb critical region containing six genes that were deleted in all four individuals, and it was found that these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
The CACP protein, which has previously been identified as both 'megakaryocyte stimulating factor precursor' and 'superficial zone protein', contains domains that have homology to somatomedin B, heparin-binding proteins, mucins and haemopexins, and the similarity of CACP sequence to that of other protein families and the expression in non-skeletal tissues suggest it may have diverse biological activities.