Literature DB >> 20673865

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

Molly B Sheridan1, Takema Kato, Chad Haldeman-Englert, G Reza Jalali, Jeff M Milunsky, Ying Zou, Ruediger Klaes, Georgio Gimelli, Stefania Gimelli, Robert M Gemmill, Harry A Drabkin, April M Hacker, Julia Brown, David Tomkins, Tamim H Shaikh, Hiroki Kurahashi, Elaine H Zackai, Beverly S Emanuel.   

Abstract

Palindrome-mediated genomic instability has been associated with chromosomal translocations, including the recurrent t(11;22)(q23;q11). We report a syndrome characterized by extremity anomalies, mild dysmorphia, and intellectual impairment caused by 3:1 meiotic segregation of a previously unrecognized recurrent palindrome-mediated rearrangement, the t(8;22)(q24.13;q11.21). There are at least ten prior reports of this translocation, and nearly identical PATRR8 and PATRR22 breakpoints were validated in several of these published cases. PCR analysis of sperm DNA from healthy males indicates that the t(8;22) arises de novo during gametogenesis in some, but not all, individuals. Furthermore, demonstration that de novo PATRR8-to-PATRR11 translocations occur in sperm suggests that palindrome-mediated translocation is a universal mechanism producing chromosomal rearrangements.

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Year:  2010        PMID： 20673865      PMCID： PMC2917714          DOI： 10.1016/j.ajhg.2010.07.002

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  50 in total

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Journal:  Clin Genet       Date:  2005-08       Impact factor: 4.438

2.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Authors:  D Warburton
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

3.  The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions.

Authors:  H Kehrer-Sawatzki; J Häussler; W Krone; H Bode; D E Jenne; K U Mehnert; U Tümmers; G Assum
Journal:  Hum Genet       Date:  1997-02       Impact factor: 4.132

4.  Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1)

Authors:  P Petit; J R Vermeersch; J P Fryns
Journal:  Genet Couns       Date:  1998

5.  Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I.

Authors:  I Petković; A de Capoa; P Giancotti; I Barisić
Journal:  Clin Genet       Date:  1996-12       Impact factor: 4.438

6.  Chromosome analysis in couples with recurrent abortions.

Authors:  K Soh; A Yajima; N Ozawa; Y Abe; T Takabayashi; S Sato; S Sou; M Suzuki
Journal:  Tohoku J Exp Med       Date:  1984-10       Impact factor: 1.848

7.  The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age.

Authors:  D L Van Dyke; L Weiss; J R Roberson; V R Babu
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025

8.  Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1).

Authors:  H Sato; K Takaya; S Nihira; H Fujita
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

9.  The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8.

Authors:  R M Gemmill; J D West; F Boldog; N Tanaka; L J Robinson; D I Smith; F Li; H A Drabkin
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-04       Impact factor: 11.205

10.  Genetic variation affects de novo translocation frequency.

Authors:  Takema Kato; Hidehito Inagaki; Kouji Yamada; Hiroshi Kogo; Tamae Ohye; Hiroe Kowa; Kayuri Nagaoka; Mariko Taniguchi; Beverly S Emanuel; Hiroki Kurahashi
Journal:  Science       Date:  2006-02-17       Impact factor: 47.728
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  26 in total

1.  X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.

Authors:  Hongwen Zhu; Dandan Shang; Miao Sun; Sunju Choi; Qing Liu; Jiajie Hao; Luis E Figuera; Feng Zhang; Kwong Wai Choy; Yang Ao; Yang Liu; Xiao-Lin Zhang; Fengzhen Yue; Ming-Rong Wang; Li Jin; Pragna I Patel; Tao Jing; Xue Zhang
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

Review 2.  Chromosomal translocations and palindromic AT-rich repeats.

Authors:  Takema Kato; Hiroki Kurahashi; Beverly S Emanuel
Journal:  Curr Opin Genet Dev       Date:  2012-03-06       Impact factor: 5.578

3.  Searching for non-B DNA-forming motifs using nBMST (non-B DNA motif search tool).

Authors:  R Z Cer; K H Bruce; D E Donohue; N A Temiz; U S Mudunuri; M Yi; N Volfovsky; A Bacolla; B T Luke; J R Collins; R M Stephens
Journal:  Curr Protoc Hum Genet       Date:  2012-04

4.  Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Authors:  Zhishuo Ou; Paweł Stankiewicz; Zhilian Xia; Amy M Breman; Brian Dawson; Joanna Wiszniewska; Przemyslaw Szafranski; M Lance Cooper; Mitchell Rao; Lina Shao; Sarah T South; Karlene Coleman; Paul M Fernhoff; Marcel J Deray; Sally Rosengren; Elizabeth R Roeder; Victoria B Enciso; A Craig Chinault; Ankita Patel; Sung-Hae L Kang; Chad A Shaw; James R Lupski; Sau W Cheung
Journal:  Genome Res       Date:  2011-01       Impact factor: 9.043

Review 5.  On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Authors:  David N Cooper; Albino Bacolla; Claude Férec; Karen M Vasquez; Hildegard Kehrer-Sawatzki; Jian-Min Chen
Journal:  Hum Mutat       Date:  2011-09-02       Impact factor: 4.878

6.  Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.

Authors:  Sarah Correll-Tash; Brenna Lilley; Harold Salmons Iv; Elisabeth Mlynarski; Colleen P Franconi; Meghan McNamara; Carson Woodbury; Charles A Easley; Beverly S Emanuel
Journal:  Hum Mol Genet       Date:  2021-02-25       Impact factor: 6.150

7.  Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.

Authors:  Xiaohui Tan; Sarah L Anzick; Sikandar G Khan; Takahiro Ueda; Gary Stone; John J Digiovanna; Deborah Tamura; Daniel Wattendorf; David Busch; Carmen C Brewer; Christopher Zalewski; John A Butman; Andrew J Griffith; Paul S Meltzer; Kenneth H Kraemer
Journal:  Hum Mutat       Date:  2013-06-03       Impact factor: 4.878

8.  Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.

Authors:  Takema Kato; Colleen P Franconi; Molly B Sheridan; April M Hacker; Hidehito Inagakai; Thomas W Glover; Martin F Arlt; Harry A Drabkin; Robert M Gemmill; Hiroki Kurahashi; Beverly S Emanuel
Journal:  Cancer Genet       Date:  2014-03-18

9.  Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.

Authors:  Hidehito Inagaki; Tamae Ohye; Hiroshi Kogo; Makiko Tsutsumi; Takema Kato; Maoqing Tong; Beverly S Emanuel; Hiroki Kurahashi
Journal:  Nat Commun       Date:  2013       Impact factor: 14.919

10.  Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.

Authors:  Xiaoli Chen; Yiping Shen; Feng Zhang; Colby Chiang; Vamsee Pillalamarri; Ian Blumenthal; Michael Talkowski; Bai-Lin Wu; James F Gusella
Journal:  Am J Hum Genet       Date:  2013-03-07       Impact factor: 11.025
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