ライフサイエンスコーパス: duplicon

1 ses copy number change in part or all of the duplicon.

2 or genome and (b) the actual sequence of the duplicon.

3 igin and degree of sequence identity of each duplicon.

4 as gene families, pseudogenes, and segmental duplicons.

5 ing haplotype variation from variation among duplicons.

6 ation, dispersal, and genomic instability of duplicons.

7 the propensity of such regions to accumulate duplicons.

8 rom beyond 7q11.23 are also present in these duplicons.

9 ending on the orientation of the recombining duplicons.

10 l inversion breakpoints map near GOLGA8 core duplicons-a approximately 14-kb primate-specific chromos

11 and CNV assays demonstrated for haptoglobin duplicon and 'chemokine (C-C motif) ligand 3-like 1' gen

12 chanistic evidence for the role of this core duplicon and its palindromic architecture in promoting t

13 icant insights into the structure of complex duplicons and into the evolutionary pathways of formatio

14 icon, with approximately 11 HERC2-containing duplicons, and demonstrated that recessive mutations in

15 Multiple duplicons are concatenated together to form larger block

16 nd phylogenetic analysis indicate that these duplicons are differentially distributed in human, chimp

17 Although the duplicons are not present in mice, the order of the sing

18 Duplicons can have simple or very complex structures, wi

19 followed by a rapid distribution of a larger duplicon cassette among the pericentromeric regions.

20 etion formation, based on the orientation of duplicons' components relative to each other and to the

21 Homologous recombination between different duplicon copies leads to chromosomal rearrangements, suc

22 C contig for the duplicated genomic segment (duplicon) demonstrated a size of approximately 400 kb.

23 he region with an average density of one ZNF duplicon every 150-180 kb of genomic distance.

24 A third copy of this duplicon exists in inverted orientation distal to the te

25 g to analyze multiple alignments of 24 human duplicon families that span >8 Mb of DNA.

26 complicates comparative sequence analysis of duplicon families, and could profoundly influence the te

27 nversion, are known to occur within specific duplicon families, but the broader contribution of these

28 Two large duplicons, flanking the deletion, of >/=320 kb contain u

29 develop a catalog of sequence tags for each duplicon for each chromosome.

30 In contrast, the other duplicon has retained the intact Uqcrb gene and (in mous

31 The duplicons have separately maintained distinct functions

32 e location, indicating that portions of some duplicons have undergone local amplification/attrition.

33 uence comparisons show that HERC2-containing duplicons have undergone several deletion, inversion, an

34 rsion, and dispersion events to form complex duplicons in 15q11, 15q13, and 16p11.

35 chromosomes (14%) carry only one copy of the duplicon, including one DXYS14 repeat array that is also

36 a) the insertion breakpoints where the extra duplicons inserted into the donor genome and (b) the act

37 Analysis of the different duplicons involved in human genomic disorders identifies

38 etween chromosome-specific low-copy repeats (duplicons) is an underlying mechanism for several geneti

39 HERC2 and other duplicons map to these BP regions, with the 2-Mb PWS/AS

40 sition of these four unique genes by a HERC2 duplicon-mediated process to form the BP1-BP2 region.

41 contains many imprinted genes, and undergoes duplicon-mediated rearrangements, including deletions, d

42 ost of the chromosome rearrangements involve duplicons near pericentromeric regions, which may relate

43 In mouse and rat, one duplicon now contains a degrading Uqcrb pseudogene but r

44 Chromosome-specific low-copy repeats, or duplicons, occur in multiple regions of the human genome

45 segregation in prokaryotes demands a single duplicon per chromosome, while other "precarious" featur

46 These duplicons show 94%-98.5% sequence identity to their ance

47 These duplicons show stronger sequence conservation with regar

48 However, the duplicon spanned both Uqcrb and a cis-regulatory element

49 We analyze duplicons starting from identified high-copy number vari

50 cated is determined by its proximity to core duplicons, such as LCR16a.

51 map to an ape-specific interchromosomal core duplicon that clusters at sites of evolutionary inversio

52 nd Uqcrb are both associated with homologous duplicons that may have catalyzed a rearrangement separa

53 Duplicons therefore appear to mediate genomic fluidity i

54 Recently, a chromosome 15 duplicon was discovered in the common breakpoint regions

55 Surprisingly, the duplicon was found to contain at least seven different e

56 tions are frequently organized around 'core' duplicons, which are enriched for transcripts and, in so

57 s well as the evolutionary origin of various duplicons will further our understanding of the structur

58 ERC2 transcript as an ancestral gene in this duplicon, with approximately 11 HERC2-containing duplico

59 P2 or BP3 showed two different copies of the duplicon within BP3, while BP2 comprised a single copy.

60 ed to delineate the order and orientation of duplicons within complex duplication blocks and used to