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Items: 1 to 20 of 106

1.

The birth of a human-specific neural gene by incomplete duplication and gene fusion.

Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE.

Genome Biol. 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9.

2.

1q21.1 microduplication: large verbal-nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number.

Xavier J, Zhou B, Bilan F, Zhang X, Gilbert-Dussardier B, Viaux-Savelon S, Pattni R, Ho SS, Cohen D, Levinson DF, Urban AE, Laurent-Levinson C.

NPJ Genom Med. 2018 Aug 22;3:24. doi: 10.1038/s41525-018-0059-2. eCollection 2018.

3.

Transcriptional fates of human-specific segmental duplications in brain.

Dougherty ML, Underwood JG, Nelson BJ, Tseng E, Munson KM, Penn O, Nowakowski TJ, Pollen AA, Eichler EE.

Genome Res. 2018 Oct;28(10):1566-1576. doi: 10.1101/gr.237610.118. Epub 2018 Sep 18.

4.

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.

Newman S, Hermetz KE, Weckselblatt B, Rudd MK.

Am J Hum Genet. 2015 Feb 5;96(2):208-20. doi: 10.1016/j.ajhg.2014.12.017. Epub 2015 Jan 29.

5.

Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

Bailey JA, Yavor AM, Viggiano L, Misceo D, Horvath JE, Archidiacono N, Schwartz S, Rocchi M, Eichler EE.

Am J Hum Genet. 2002 Jan;70(1):83-100. Epub 2001 Nov 30.

6.

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, Denman L, Harshman L, Baker C, Raja A, Penewit K, Janke N, Tang WJ, Ventura M, Banci L, Antonacci F, Akey JM, Amemiya CT, Gage FH, Reymond A, Eichler EE.

Nature. 2016 Aug 11;536(7615):205-9. Epub 2016 Aug 3.

7.

A 360-kb interchromosomal duplication of the human HYDIN locus.

Doggett NA, Xie G, Meincke LJ, Sutherland RD, Mundt MO, Berbari NS, Davy BE, Robinson ML, Rudd MK, Weber JL, Stallings RL, Han C.

Genomics. 2006 Dec;88(6):762-771. doi: 10.1016/j.ygeno.2006.07.012. Epub 2006 Aug 30.

8.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A.

Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279.

9.

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.

Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, Eichler EE.

Cell. 2012 May 11;149(4):912-22. doi: 10.1016/j.cell.2012.03.033. Epub 2012 May 3.

10.

Diversity of human copy number variation and multicopy genes.

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE.

Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005.

11.

Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.

Cardone MF, Jiang Z, D'Addabbo P, Archidiacono N, Rocchi M, Eichler EE, Ventura M.

Genome Biol. 2008;9(2):R28. doi: 10.1186/gb-2008-9-2-r28. Epub 2008 Feb 7.

12.

Adaptive evolution of genes duplicated from the Drosophila pseudoobscura neo-X chromosome.

Meisel RP, Hilldorfer BB, Koch JL, Lockton S, Schaeffer SW.

Mol Biol Evol. 2010 Aug;27(8):1963-78. doi: 10.1093/molbev/msq085. Epub 2010 Mar 29.

13.

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.

O'Bleness M, Searles VB, Dickens CM, Astling D, Albracht D, Mak AC, Lai YY, Lin C, Chu C, Graves T, Kwok PY, Wilson RK, Sikela JM.

BMC Genomics. 2014 May 20;15:387. doi: 10.1186/1471-2164-15-387.

14.

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.

Wang HD, Liu L, Wu D, Li T, Cui CY, Zhang LZ, Wang CZ.

J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2948.

15.

The Evolutionary Fates of a Large Segmental Duplication in Mouse.

Morgan AP, Holt JM, McMullan RC, Bell TA, Clayshulte AM, Didion JP, Yadgary L, Thybert D, Odom DT, Flicek P, McMillan L, de Villena FP.

Genetics. 2016 Sep;204(1):267-85. doi: 10.1534/genetics.116.191007. Epub 2016 Jul 2.

16.

Extensive divergence in alternative splicing patterns after gene and genome duplication during the evolutionary history of Arabidopsis.

Zhang PG, Huang SZ, Pin AL, Adams KL.

Mol Biol Evol. 2010 Jul;27(7):1686-97. doi: 10.1093/molbev/msq054. Epub 2010 Feb 25.

PMID:
20185454
17.

Gene structure variation in segmental duplication block C of human chromosome 7q 11.23 during primate evolution.

Kim YJ, Ahn K, Gim JA, Oh MH, Han K, Kim HS.

Gene. 2015 Dec 1;573(2):285-95. doi: 10.1016/j.gene.2015.07.060. Epub 2015 Jul 18.

PMID:
26196062
18.

Accelerated evolution after gene duplication: a time-dependent process affecting just one copy.

Pegueroles C, Laurie S, Albà MM.

Mol Biol Evol. 2013 Aug;30(8):1830-42. doi: 10.1093/molbev/mst083. Epub 2013 Apr 26.

PMID:
23625888
19.

The vertebrate makorin ubiquitin ligase gene family has been shaped by large-scale duplication and retroposition from an ancestral gonad-specific, maternal-effect gene.

Böhne A, Darras A, D'Cotta H, Baroiller JF, Galiana-Arnoux D, Volff JN.

BMC Genomics. 2010 Dec 20;11:721. doi: 10.1186/1471-2164-11-721.

20.

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium.

Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11.

PMID:
26066539

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