Literature DB >> 33441948

Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes.

Weiyin Zhou1,2, Shu-Hong Lin1, Sairah M Khan1, Meredith Yeager1,2, Stephen J Chanock1, Mitchell J Machiela3.   

Abstract

Age-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a population-based survey of 196,219 UK Biobank men. We detected 12 (0.006%) men with mosaic chromosome X gains ≥ 2 Mb and found no evidence for mosaic chromosome X loss, a level of detection substantially lower than for autosomes or other sex chromosomes. The rarity of chromosome X mosaicism in males relative to females reflects the importance of chromosome X gene dosage for leukocyte function.

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Year:  2021        PMID： 33441948      PMCID： PMC7806852          DOI： 10.1038/s41598-020-80948-0

Source DB:  PubMed          Journal:  Sci Rep        ISSN： 2045-2322            Impact factor:   4.996


  32 in total

1.  Age-related somatic structural changes in the nuclear genome of human blood cells.

Authors:  Lars A Forsberg; Chiara Rasi; Hamid R Razzaghian; Geeta Pakalapati; Lindsay Waite; Krista Stanton Thilbeault; Anna Ronowicz; Nathan E Wineinger; Hemant K Tiwari; Dorret Boomsma; Maxwell P Westerman; Jennifer R Harris; Robert Lyle; Magnus Essand; Fredrik Eriksson; Themistocles L Assimes; Carlos Iribarren; Eric Strachan; Terrance P O'Hanlon; Lisa G Rider; Frederick W Miller; Vilmantas Giedraitis; Lars Lannfelt; Martin Ingelsson; Arkadiusz Piotrowski; Nancy L Pedersen; Devin Absher; Jan P Dumanski
Journal:  Am J Hum Genet       Date:  2012-02-02       Impact factor: 11.025

2.  RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues.

Authors:  Keren Yizhak; François Aguet; Jaegil Kim; Julian M Hess; Kirsten Kübler; Jonna Grimsby; Ruslana Frazer; Hailei Zhang; Nicholas J Haradhvala; Daniel Rosebrock; Dimitri Livitz; Xiao Li; Eila Arich-Landkof; Noam Shoresh; Chip Stewart; Ayellet V Segrè; Philip A Branton; Paz Polak; Kristin G Ardlie; Gad Getz
Journal:  Science       Date:  2019-06-07       Impact factor: 47.728

3.  Age-related clonal hematopoiesis associated with adverse outcomes.

Authors:  Siddhartha Jaiswal; Pierre Fontanillas; Jason Flannick; Alisa Manning; Peter V Grauman; Brenton G Mar; R Coleman Lindsley; Craig H Mermel; Noel Burtt; Alejandro Chavez; John M Higgins; Vladislav Moltchanov; Frank C Kuo; Michael J Kluk; Brian Henderson; Leena Kinnunen; Heikki A Koistinen; Claes Ladenvall; Gad Getz; Adolfo Correa; Benjamin F Banahan; Stacey Gabriel; Sekar Kathiresan; Heather M Stringham; Mark I McCarthy; Michael Boehnke; Jaakko Tuomilehto; Christopher Haiman; Leif Groop; Gil Atzmon; James G Wilson; Donna Neuberg; David Altshuler; Benjamin L Ebert
Journal:  N Engl J Med       Date:  2014-11-26       Impact factor: 91.245

4.  Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence.

Authors:  Giulio Genovese; Anna K Kähler; Robert E Handsaker; Johan Lindberg; Samuel A Rose; Samuel F Bakhoum; Kimberly Chambert; Eran Mick; Benjamin M Neale; Menachem Fromer; Shaun M Purcell; Oscar Svantesson; Mikael Landén; Martin Höglund; Sören Lehmann; Stacey B Gabriel; Jennifer L Moran; Eric S Lander; Patrick F Sullivan; Pamela Sklar; Henrik Grönberg; Christina M Hultman; Steven A McCarroll
Journal:  N Engl J Med       Date:  2014-11-26       Impact factor: 91.245

5.  Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.

Authors:  Iñigo Martincorena; Amit Roshan; Moritz Gerstung; Peter Ellis; Peter Van Loo; Stuart McLaren; David C Wedge; Anthony Fullam; Ludmil B Alexandrov; Jose M Tubio; Lucy Stebbings; Andrew Menzies; Sara Widaa; Michael R Stratton; Philip H Jones; Peter J Campbell
Journal:  Science       Date:  2015-05-22       Impact factor: 47.728

6.  Characterization of large structural genetic mosaicism in human autosomes.

Authors:  Mitchell J Machiela; Weiyin Zhou; Joshua N Sampson; Michael C Dean; Kevin B Jacobs; Amanda Black; Louise A Brinton; I-Shou Chang; Chu Chen; Constance Chen; Kexin Chen; Linda S Cook; Marta Crous Bou; Immaculata De Vivo; Jennifer Doherty; Christine M Friedenreich; Mia M Gaudet; Christopher A Haiman; Susan E Hankinson; Patricia Hartge; Brian E Henderson; Yun-Chul Hong; H Dean Hosgood; Chao A Hsiung; Wei Hu; David J Hunter; Lea Jessop; Hee Nam Kim; Yeul Hong Kim; Young Tae Kim; Robert Klein; Peter Kraft; Qing Lan; Dongxin Lin; Jianjun Liu; Loic Le Marchand; Xiaolin Liang; Jolanta Lissowska; Lingeng Lu; Anthony M Magliocco; Keitaro Matsuo; Sara H Olson; Irene Orlow; Jae Yong Park; Loreall Pooler; Jennifer Prescott; Radhai Rastogi; Harvey A Risch; Fredrick Schumacher; Adeline Seow; Veronica Wendy Setiawan; Hongbing Shen; Xin Sheng; Min-Ho Shin; Xiao-Ou Shu; David VanDen Berg; Jiu-Cun Wang; Nicolas Wentzensen; Maria Pik Wong; Chen Wu; Tangchun Wu; Yi-Long Wu; Lucy Xia; Hannah P Yang; Pan-Chyr Yang; Wei Zheng; Baosen Zhou; Christian C Abnet; Demetrius Albanes; Melinda C Aldrich; Christopher Amos; Laufey T Amundadottir; Sonja I Berndt; William J Blot; Cathryn H Bock; Paige M Bracci; Laurie Burdett; Julie E Buring; Mary A Butler; Tania Carreón; Nilanjan Chatterjee; Charles C Chung; Michael B Cook; Michael Cullen; Faith G Davis; Ti Ding; Eric J Duell; Caroline G Epstein; Jin-Hu Fan; Jonine D Figueroa; Joseph F Fraumeni; Neal D Freedman; Charles S Fuchs; Yu-Tang Gao; Susan M Gapstur; Ana Patiño-Garcia; Montserrat Garcia-Closas; J Michael Gaziano; Graham G Giles; Elizabeth M Gillanders; Edward L Giovannucci; Lynn Goldin; Alisa M Goldstein; Mark H Greene; Goran Hallmans; Curtis C Harris; Roger Henriksson; Elizabeth A Holly; Robert N Hoover; Nan Hu; Amy Hutchinson; Mazda Jenab; Christoffer Johansen; Kay-Tee Khaw; Woon-Puay Koh; Laurence N Kolonel; Charles Kooperberg; Vittorio Krogh; Robert C Kurtz; Andrea LaCroix; Annelie Landgren; Maria Teresa Landi; Donghui Li; Linda M Liao; Nuria Malats; Katherine A McGlynn; Lorna H McNeill; Robert R McWilliams; Beatrice S Melin; Lisa Mirabello; Beata Peplonska; Ulrike Peters; Gloria M Petersen; Ludmila Prokunina-Olsson; Mark Purdue; You-Lin Qiao; Kari G Rabe; Preetha Rajaraman; Francisco X Real; Elio Riboli; Benjamín Rodríguez-Santiago; Nathaniel Rothman; Avima M Ruder; Sharon A Savage; Ann G Schwartz; Kendra L Schwartz; Howard D Sesso; Gianluca Severi; Debra T Silverman; Margaret R Spitz; Victoria L Stevens; Rachael Stolzenberg-Solomon; Daniel Stram; Ze-Zhong Tang; Philip R Taylor; Lauren R Teras; Geoffrey S Tobias; Kala Viswanathan; Sholom Wacholder; Zhaoming Wang; Stephanie J Weinstein; William Wheeler; Emily White; John K Wiencke; Brian M Wolpin; Xifeng Wu; Jay S Wunder; Kai Yu; Krista A Zanetti; Anne Zeleniuch-Jacquotte; Regina G Ziegler; Mariza de Andrade; Kathleen C Barnes; Terri H Beaty; Laura J Bierut; Karl C Desch; Kimberly F Doheny; Bjarke Feenstra; David Ginsburg; John A Heit; Jae H Kang; Cecilia A Laurie; Jun Z Li; William L Lowe; Mary L Marazita; Mads Melbye; Daniel B Mirel; Jeffrey C Murray; Sarah C Nelson; Louis R Pasquale; Kenneth Rice; Janey L Wiggs; Anastasia Wise; Margaret Tucker; Luis A Pérez-Jurado; Cathy C Laurie; Neil E Caporaso; Meredith Yeager; Stephen J Chanock
Journal:  Am J Hum Genet       Date:  2015-03-05       Impact factor: 11.025

7.  Somatic mutant clones colonize the human esophagus with age.

Authors:  Iñigo Martincorena; Joanna C Fowler; Agnieszka Wabik; Andrew R J Lawson; Federico Abascal; Michael W J Hall; Alex Cagan; Kasumi Murai; Krishnaa Mahbubani; Michael R Stratton; Rebecca C Fitzgerald; Penny A Handford; Peter J Campbell; Kourosh Saeb-Parsy; Philip H Jones
Journal:  Science       Date:  2018-10-18       Impact factor: 47.728

8.  Detectable clonal mosaicism from birth to old age and its relationship to cancer.

Authors:  Cathy C Laurie; Cecelia A Laurie; Kenneth Rice; Kimberly F Doheny; Leila R Zelnick; Caitlin P McHugh; Hua Ling; Kurt N Hetrick; Elizabeth W Pugh; Chris Amos; Qingyi Wei; Li-e Wang; Jeffrey E Lee; Kathleen C Barnes; Nadia N Hansel; Rasika Mathias; Denise Daley; Terri H Beaty; Alan F Scott; Ingo Ruczinski; Rob B Scharpf; Laura J Bierut; Sarah M Hartz; Maria Teresa Landi; Neal D Freedman; Lynn R Goldin; David Ginsburg; Jun Li; Karl C Desch; Sara S Strom; William J Blot; Lisa B Signorello; Sue A Ingles; Stephen J Chanock; Sonja I Berndt; Loic Le Marchand; Brian E Henderson; Kristine R Monroe; John A Heit; Mariza de Andrade; Sebastian M Armasu; Cynthia Regnier; William L Lowe; M Geoffrey Hayes; Mary L Marazita; Eleanor Feingold; Jeffrey C Murray; Mads Melbye; Bjarke Feenstra; Jae H Kang; Janey L Wiggs; Gail P Jarvik; Andrew N McDavid; Venkatraman E Seshan; Daniel B Mirel; Andrew Crenshaw; Nataliya Sharopova; Anastasia Wise; Jess Shen; David R Crosslin; David M Levine; Xiuwen Zheng; Jenna I Udren; Siiri Bennett; Sarah C Nelson; Stephanie M Gogarten; Matthew P Conomos; Patrick Heagerty; Teri Manolio; Louis R Pasquale; Christopher A Haiman; Neil Caporaso; Bruce S Weir
Journal:  Nat Genet       Date:  2012-05-06       Impact factor: 38.330

9.  Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Authors:  Po-Ru Loh; Giulio Genovese; Robert E Handsaker; Hilary K Finucane; Yakir A Reshef; Pier Francesco Palamara; Brenda M Birmann; Michael E Talkowski; Samuel F Bakhoum; Steven A McCarroll; Alkes L Price
Journal:  Nature       Date:  2018-07-11       Impact factor: 49.962

10.  Detectable clonal mosaicism and its relationship to aging and cancer.

Authors:  Kevin B Jacobs; Meredith Yeager; Weiyin Zhou; Sholom Wacholder; Zhaoming Wang; Benjamin Rodriguez-Santiago; Amy Hutchinson; Xiang Deng; Chenwei Liu; Marie-Josephe Horner; Michael Cullen; Caroline G Epstein; Laurie Burdett; Michael C Dean; Nilanjan Chatterjee; Joshua Sampson; Charles C Chung; Joseph Kovaks; Susan M Gapstur; Victoria L Stevens; Lauren T Teras; Mia M Gaudet; Demetrius Albanes; Stephanie J Weinstein; Jarmo Virtamo; Philip R Taylor; Neal D Freedman; Christian C Abnet; Alisa M Goldstein; Nan Hu; Kai Yu; Jian-Min Yuan; Linda Liao; Ti Ding; You-Lin Qiao; Yu-Tang Gao; Woon-Puay Koh; Yong-Bing Xiang; Ze-Zhong Tang; Jin-Hu Fan; Melinda C Aldrich; Christopher Amos; William J Blot; Cathryn H Bock; Elizabeth M Gillanders; Curtis C Harris; Christopher A Haiman; Brian E Henderson; Laurence N Kolonel; Loic Le Marchand; Lorna H McNeill; Benjamin A Rybicki; Ann G Schwartz; Lisa B Signorello; Margaret R Spitz; John K Wiencke; Margaret Wrensch; Xifeng Wu; Krista A Zanetti; Regina G Ziegler; Jonine D Figueroa; Montserrat Garcia-Closas; Nuria Malats; Gaelle Marenne; Ludmila Prokunina-Olsson; Dalsu Baris; Molly Schwenn; Alison Johnson; Maria Teresa Landi; Lynn Goldin; Dario Consonni; Pier Alberto Bertazzi; Melissa Rotunno; Preetha Rajaraman; Ulrika Andersson; Laura E Beane Freeman; Christine D Berg; Julie E Buring; Mary A Butler; Tania Carreon; Maria Feychting; Anders Ahlbom; J Michael Gaziano; Graham G Giles; Goran Hallmans; Susan E Hankinson; Patricia Hartge; Roger Henriksson; Peter D Inskip; Christoffer Johansen; Annelie Landgren; Roberta McKean-Cowdin; Dominique S Michaud; Beatrice S Melin; Ulrike Peters; Avima M Ruder; Howard D Sesso; Gianluca Severi; Xiao-Ou Shu; Kala Visvanathan; Emily White; Alicja Wolk; Anne Zeleniuch-Jacquotte; Wei Zheng; Debra T Silverman; Manolis Kogevinas; Juan R Gonzalez; Olaya Villa; Donghui Li; Eric J Duell; Harvey A Risch; Sara H Olson; Charles Kooperberg; Brian M Wolpin; Li Jiao; Manal Hassan; William Wheeler; Alan A Arslan; H Bas Bueno-de-Mesquita; Charles S Fuchs; Steven Gallinger; Myron D Gross; Elizabeth A Holly; Alison P Klein; Andrea LaCroix; Margaret T Mandelson; Gloria Petersen; Marie-Christine Boutron-Ruault; Paige M Bracci; Federico Canzian; Kenneth Chang; Michelle Cotterchio; Edward L Giovannucci; Michael Goggins; Judith A Hoffman Bolton; Mazda Jenab; Kay-Tee Khaw; Vittorio Krogh; Robert C Kurtz; Robert R McWilliams; Julie B Mendelsohn; Kari G Rabe; Elio Riboli; Anne Tjønneland; Geoffrey S Tobias; Dimitrios Trichopoulos; Joanne W Elena; Herbert Yu; Laufey Amundadottir; Rachael Z Stolzenberg-Solomon; Peter Kraft; Fredrick Schumacher; Daniel Stram; Sharon A Savage; Lisa Mirabello; Irene L Andrulis; Jay S Wunder; Ana Patiño García; Luis Sierrasesúmaga; Donald A Barkauskas; Richard G Gorlick; Mark Purdue; Wong-Ho Chow; Lee E Moore; Kendra L Schwartz; Faith G Davis; Ann W Hsing; Sonja I Berndt; Amanda Black; Nicolas Wentzensen; Louise A Brinton; Jolanta Lissowska; Beata Peplonska; Katherine A McGlynn; Michael B Cook; Barry I Graubard; Christian P Kratz; Mark H Greene; Ralph L Erickson; David J Hunter; Gilles Thomas; Robert N Hoover; Francisco X Real; Joseph F Fraumeni; Neil E Caporaso; Margaret Tucker; Nathaniel Rothman; Luis A Pérez-Jurado; Stephen J Chanock
Journal:  Nat Genet       Date:  2012-05-06       Impact factor: 38.330
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  4 in total

Review 1.  Germline risk of clonal haematopoiesis.

Authors:  Alexander J Silver; Alexander G Bick; Michael R Savona
Journal:  Nat Rev Genet       Date:  2021-05-13       Impact factor: 53.242

Review 2.  Dosage Compensation in Females with X-Linked Metabolic Disorders.

Authors:  Patrycja Juchniewicz; Ewa Piotrowska; Anna Kloska; Magdalena Podlacha; Jagoda Mantej; Grzegorz Węgrzyn; Stefan Tukaj; Joanna Jakóbkiewicz-Banecka
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923

3.  Rats exhibit age-related mosaic loss of chromosome Y.

Authors:  Alberto H Orta; Stephen J Bush; Mariana Gutiérrez-Mariscal; Susana Castro-Obregón; Lorraine Jaimes-Hoy; Ricardo Grande; Gloria Vázquez; Elisa Gorostieta-Salas; Mónica Martínez-Pacheco; Karina Díaz-Barba; Paola Cornejo-Páramo; Alejandro Sanchez-Flores; Tamas Székely; Araxi O Urrutia; Diego Cortez
Journal:  Commun Biol       Date:  2021-12-21

4.  Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank.

Authors:  Shu-Hong Lin; Derek W Brown; Brandon Rose; Felix Day; Olivia W Lee; Sairah M Khan; Jada Hislop; Stephen J Chanock; John R B Perry; Mitchell J Machiela
Journal:  Cell Biosci       Date:  2021-07-23       Impact factor: 7.133
  4 in total

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