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Research: The 22q11 low copy repeats are characterized by unprecedented size and structural variability
- Wolfram Demaerel,
- Yulia Mostovoy,
- Feyza Yilmaz,
- Lisanne Vervoort,
- Steven Pastor,
- Matthew S. Hestand,
- Ann Swillen,
- Elfi Vergaelen,
- Elizabeth A. Geiger,
- Curtis R. Coughlin,
- Stephen K. Chow,
- Donna McDonald-McGinn,
- Bernice Morrow,
- Pui-Yan Kwok,
- Ming Xiao,
- Beverly S. Emanuel,
- Tamim H. Shaikh,
- and Joris R. Vermeesch
Genome Res. September 2019 29: 1389-1401; doi:10.1101/gr.248682.119
..., but neither is it observed to be present in more than one copy. Both TMEM191B and RIMBP3 have paralogs in LCR22D (TMEM191C, RIMBP3B, and -C). The genes PRODH, DGCR5, and DGCR6 reside in SD22-5 (Guo et al. 2018), which was retained in even the smallest mapped allele of LCR22A. In all mapped individuals...
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ARTICLE: Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome
- Adam Pavlicek,
- Reniqua House,
- Andrew J. Gentles,
- Jerzy Jurka,
- and Bernice E. Morrow
Genome Res. November 2005 15: 1487-1495; doi:10.1101/gr.4281205
...in two copies on 22q11.2 (Supplemental Fig. 1S). Two functional copies of the DGCR6 gene are present on human Chromosome 22q11 and are due to a duplication of an ancestral locus ( Edelmann et al. 2001 ). LCR22-2 contains three large intra-LCR duplications denoted dupA-C ( Fig. 1 ). DupA starts within...
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Method: Detection and analysis of ancient segmental duplications in mammalian genomes
- Lianrong Pu,
- Yu Lin,
- and Pavel A. Pevzner
Genome Res. June 2018 28: 901-909; Published in Advance May 7, 2018, doi:10.1101/gr.228718.117
...Learning Publishers, San Diego, CA. ↵Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, Lupski JR, Morrow BE. 2001. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res 11: 208–217. ↵Gordon D, Huddleston J, Chaisson...
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ERRATUM: Errata for vol. 11, p. 208 Genome Res. March 1, 2001 11: 503

...1549-5469 genome;11/3/503 1088-9051 Errata for vol. 11, p. 208 Errata for vol. 11, p. 208 Genome Research 11: 208–217 (2001) Two Functional Copies of the DGCR6 Gene Are Present on Human Chromosome 22q11 Due to a Duplication of an Ancestral Locus Lisa Edelmann, Pavel Stankiewicz, Elizabeth Spiteri...
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ARTICLE: Serial segmental duplications during primate evolution result in complex human genome architecture
- Paweł Stankiewicz,
- Christine J. Shaw,
- Marjorie Withers,
- Ken Inoue,
- and James R. Lupski
Genome Res. November 2004 14: 2209-2220; doi:10.1101/gr.2746604
...confirmed the brain expression of this transcript by PCR from the brain tissue cDNA library; the expected ∼550-bp product was amplified (data not shown). This suggests that the duplicated copy of the ancestral AGIP gene ( Inoue et al. 2001 ) may remain active in the LCR17pB copy and further supports...
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REVIEW: Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders
- Yonggang Ji,
- Evan E. Eichler,
- Stuart Schwartz,
- and Robert D. Nicholls
Genome Res. May 1, 2000 10: 597-610; doi:10.1101/gr.10.5.597
...copies leads to chromosomal rearrangements, such as deletions, duplications, inversions, and inverted duplications, depending on the orientation of the recombining duplicons. When such rearrangements cause dosage imbalance of a developmentally important gene(s), genetic diseases now termed genomic...

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