Open Access
Genes and Development, volume 28, issue 19, pages 2090-2102
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1
Publication type: Journal Article
Publication date: 2014-09-18
Journal:
Genes and Development
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor: 10.5
ISSN: 08909369, 15495477
PubMed ID:
25233904
Genetics
Developmental Biology
Abstract
Germline mutations in telomere biology genes cause dyskeratosis congenita (DC), an inherited bone marrow failure and cancer predisposition syndrome. DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation. Approximately 70% of DC cases are associated with a germline mutation in one of nine genes, the products of which are all involved in telomere biology. Using exome sequencing, we identified mutations in Adrenocortical Dysplasia Homolog (ACD) (encoding TPP1), a component of the telomeric shelterin complex, in one family affected by HH. The proband inherited a deletion from his father and a missense mutation from his mother, resulting in extremely short telomeres and a severe clinical phenotype. Characterization of the mutations revealed that the single-amino-acid deletion affecting the TEL patch surface of the TPP1 protein significantly compromises both telomerase recruitment and processivity, while the missense mutation in the TIN2-binding region of TPP1 is not as clearly deleterious to TPP1 function. Our results emphasize the critical roles of the TEL patch in proper stem cell function and demonstrate that TPP1 is the second shelterin component (in addition to TIN2) to be implicated in DC.
Citations by journals
1
2
3
4
|
|
Cell Reports
|
Cell Reports
4 publications, 4.08%
|
Journal of Clinical Investigation
|
Journal of Clinical Investigation
3 publications, 3.06%
|
Genes
|
Genes
3 publications, 3.06%
|
Nature Communications
|
Nature Communications
3 publications, 3.06%
|
Journal of Biological Chemistry
|
Journal of Biological Chemistry
3 publications, 3.06%
|
European Respiratory Journal
|
European Respiratory Journal
2 publications, 2.04%
|
Cells
|
Cells
2 publications, 2.04%
|
British Journal of Haematology
|
British Journal of Haematology
2 publications, 2.04%
|
American Journal of Medical Genetics, Part A
|
American Journal of Medical Genetics, Part A
2 publications, 2.04%
|
Expert Review of Hematology
|
Expert Review of Hematology
2 publications, 2.04%
|
Proceedings of the National Academy of Sciences of the United States of America
|
Proceedings of the National Academy of Sciences of the United States of America
2 publications, 2.04%
|
Life Science Alliance
|
Life Science Alliance
2 publications, 2.04%
|
Biomolecular NMR Assignments
|
Biomolecular NMR Assignments
1 publication, 1.02%
|
JCI insight
|
JCI insight
1 publication, 1.02%
|
DMM Disease Models and Mechanisms
|
DMM Disease Models and Mechanisms
1 publication, 1.02%
|
F1000Research
|
F1000Research
1 publication, 1.02%
|
Frontiers in Immunology
|
Frontiers in Immunology
1 publication, 1.02%
|
Frontiers in Pediatrics
|
Frontiers in Pediatrics
1 publication, 1.02%
|
Nature Reviews Genetics
|
Nature Reviews Genetics
1 publication, 1.02%
|
Cellular and Molecular Life Sciences
|
Cellular and Molecular Life Sciences
1 publication, 1.02%
|
Nature Reviews Molecular Cell Biology
|
Nature Reviews Molecular Cell Biology
1 publication, 1.02%
|
Cell Death and Disease
|
Cell Death and Disease
1 publication, 1.02%
|
BMC Cancer
|
BMC Cancer
1 publication, 1.02%
|
Nature Structural and Molecular Biology
|
Nature Structural and Molecular Biology
1 publication, 1.02%
|
International Journal of Hematology
|
International Journal of Hematology
1 publication, 1.02%
|
Bone Marrow Transplantation
|
Bone Marrow Transplantation
1 publication, 1.02%
|
Genetics in Medicine
|
Genetics in Medicine
1 publication, 1.02%
|
PLoS Genetics
|
PLoS Genetics
1 publication, 1.02%
|
PLoS ONE
|
PLoS ONE
1 publication, 1.02%
|
1
2
3
4
|
Citations by publishers
2
4
6
8
10
12
14
16
18
|
|
Elsevier
|
Elsevier
18 publications, 18.37%
|
Springer Nature
|
Springer Nature
17 publications, 17.35%
|
Wiley
|
Wiley
10 publications, 10.2%
|
Multidisciplinary Digital Publishing Institute (MDPI)
|
Multidisciplinary Digital Publishing Institute (MDPI)
6 publications, 6.12%
|
American Society for Clinical Investigation
|
American Society for Clinical Investigation
4 publications, 4.08%
|
Taylor & Francis
|
Taylor & Francis
4 publications, 4.08%
|
American Society for Biochemistry and Molecular Biology
|
American Society for Biochemistry and Molecular Biology
3 publications, 3.06%
|
Cold Spring Harbor Laboratory
|
Cold Spring Harbor Laboratory
3 publications, 3.06%
|
European Respiratory Society (ERS)
|
European Respiratory Society (ERS)
2 publications, 2.04%
|
Frontiers Media S.A.
|
Frontiers Media S.A.
2 publications, 2.04%
|
Public Library of Science (PLoS)
|
Public Library of Science (PLoS)
2 publications, 2.04%
|
Oxford University Press
|
Oxford University Press
2 publications, 2.04%
|
Proceedings of the National Academy of Sciences (PNAS)
|
Proceedings of the National Academy of Sciences (PNAS)
2 publications, 2.04%
|
Rockefeller University Press
|
Rockefeller University Press
2 publications, 2.04%
|
The Company of Biologists
|
The Company of Biologists
1 publication, 1.02%
|
F1000 Research
|
F1000 Research
1 publication, 1.02%
|
Korean Society for Biochemistry and Molecular Biology
|
Korean Society for Biochemistry and Molecular Biology, 1, 1.02%
Korean Society for Biochemistry and Molecular Biology
1 publication, 1.02%
|
eLife Sciences Publications
|
eLife Sciences Publications
1 publication, 1.02%
|
American Society of Hematology
|
American Society of Hematology
1 publication, 1.02%
|
American Society of Clinical Oncology (ASCO)
|
American Society of Clinical Oncology (ASCO)
1 publication, 1.02%
|
Annual Reviews
|
Annual Reviews
1 publication, 1.02%
|
2
4
6
8
10
12
14
16
18
|
- We do not take into account publications that without a DOI.
- Statistics recalculated only for publications connected to researchers, organizations and labs registered on the platform.
- Statistics recalculated weekly.
{"yearsCitations":{"type":"bar","data":{"show":true,"labels":[2015,2016,2017,2018,2019,2020,2021,2022,2023,2024],"ids":[0,0,0,0,0,0,0,0,0,0],"codes":[0,0,0,0,0,0,0,0,0,0],"imageUrls":["","","","","","","","","",""],"datasets":[{"label":"Citations number","data":[14,19,8,14,9,10,10,6,7,1],"backgroundColor":["#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6"],"percentage":["14.29","19.39","8.16","14.29","9.18","10.2","10.2","6.12","7.14","1.02"],"barThickness":null}]},"options":{"indexAxis":"x","maintainAspectRatio":true,"scales":{"y":{"ticks":{"precision":0,"autoSkip":false,"font":{"family":"Montserrat"},"color":"#000000"}},"x":{"ticks":{"stepSize":1,"precision":0,"font":{"family":"Montserrat"},"color":"#000000"}}},"plugins":{"legend":{"position":"top","labels":{"font":{"family":"Montserrat"},"color":"#000000"}},"title":{"display":true,"text":"Citations per year","font":{"size":24,"family":"Montserrat","weight":600},"color":"#000000"}}}},"journals":{"type":"bar","data":{"show":true,"labels":["Cell Reports","Journal of Clinical Investigation","Genes","Nature Communications","Journal of Biological Chemistry","European Respiratory Journal","Cells","British Journal of Haematology","American Journal of Medical Genetics, Part A","Expert Review of Hematology","Proceedings of the National Academy of Sciences of the United States of America","Life Science Alliance","Biomolecular NMR Assignments","JCI insight","DMM Disease Models and Mechanisms","F1000Research","Frontiers in Immunology","Frontiers in Pediatrics","Nature Reviews Genetics","Cellular and Molecular Life Sciences","Nature Reviews Molecular Cell Biology","Cell Death and Disease","BMC Cancer","Nature Structural and Molecular Biology","International Journal of Hematology","Bone Marrow Transplantation","Genetics in Medicine","PLoS Genetics","PLoS ONE"],"ids":[9130,1384,8879,3231,19451,24322,25293,25180,3942,20919,306,15447,15938,19305,7874,24267,1699,1843,13955,5151,10207,25236,6868,13408,24345,8831,9341,785,24963],"codes":[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],"imageUrls":["\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/aFa86lAy63Pq5tYKiOsH017UsgJA6uk6ed66C0Ns_medium.webp","\/storage\/images\/resized\/MjH1ITP7lMYGxeqUZfkt2BnVLgjkk413jwBV97XX_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/OuA6WPZekwEiUM99mP2pSqj4yHPxHezM6xgLhAjO_medium.webp","\/storage\/images\/resized\/hMjtEcPnOlZu0Qdup5ZFVJML9APp6JeBF0xfZC5e_medium.webp","\/storage\/images\/resized\/MjH1ITP7lMYGxeqUZfkt2BnVLgjkk413jwBV97XX_medium.webp","\/storage\/images\/resized\/bRyGpdm98BkAUYiK1YFNpl5Z7hPu6Gd87gbIeuG3_medium.webp","\/storage\/images\/resized\/bRyGpdm98BkAUYiK1YFNpl5Z7hPu6Gd87gbIeuG3_medium.webp","\/storage\/images\/resized\/5YZtvLvkPZuc2JHOaZsjCvGSHFCuC3drUwN3YAc5_medium.webp","\/storage\/images\/resized\/mxFdPe9qujsfvfYfcN0QOclAiYORFb0xrRlwV8gs_medium.webp","\/storage\/images\/resized\/lEA1FyUnFAZR1DchuczZi5bjAixG3TNeWVz6oF4R_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/aFa86lAy63Pq5tYKiOsH017UsgJA6uk6ed66C0Ns_medium.webp","\/storage\/images\/resized\/ko5EaisKGm66J1hHXtfEgVEeeWb9uOcMofpNuf0a_medium.webp","\/storage\/images\/resized\/WEXVM2IukNfkmwoqmPhtMKmAeERljKWAbbXmEX7m_medium.webp","\/storage\/images\/resized\/4QWA67eqfcfyOiA8Wk7YnqroHFqQbTsmDJUYTCTg_medium.webp","\/storage\/images\/resized\/4QWA67eqfcfyOiA8Wk7YnqroHFqQbTsmDJUYTCTg_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/PRGhlgB4OKRltSNtT39eA6wlnOTGRap1QQ6FQHih_medium.webp","\/storage\/images\/resized\/PRGhlgB4OKRltSNtT39eA6wlnOTGRap1QQ6FQHih_medium.webp"],"datasets":[{"label":"","data":[4,3,3,3,3,2,2,2,2,2,2,2,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1],"backgroundColor":["#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6"],"percentage":[4.08,3.06,3.06,3.06,3.06,2.04,2.04,2.04,2.04,2.04,2.04,2.04,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02],"barThickness":13}]},"options":{"indexAxis":"y","maintainAspectRatio":false,"scales":{"y":{"ticks":{"precision":0,"autoSkip":false,"font":{"family":"Montserrat"},"color":"#000000"}},"x":{"ticks":{"stepSize":null,"precision":0,"font":{"family":"Montserrat"},"color":"#000000"}}},"plugins":{"legend":{"position":"top","labels":{"font":{"family":"Montserrat"},"color":"#000000"}},"title":{"display":true,"text":"Journals","font":{"size":24,"family":"Montserrat","weight":600},"color":"#000000"}}}},"publishers":{"type":"bar","data":{"show":true,"labels":["Elsevier","Springer Nature","Wiley","Multidisciplinary Digital Publishing Institute (MDPI)","American Society for Clinical Investigation","Taylor & Francis","American Society for Biochemistry and Molecular Biology","Cold Spring Harbor Laboratory","European Respiratory Society (ERS)","Frontiers Media S.A.","Public Library of Science (PLoS)","Oxford University Press","Proceedings of the National Academy of Sciences (PNAS)","Rockefeller University Press","The Company of Biologists","F1000 Research","Korean Society for Biochemistry and Molecular Biology","eLife Sciences Publications","American Society of Hematology","American Society of Clinical Oncology (ASCO)","Annual Reviews"],"ids":[17,8,11,202,564,18,2090,6909,3289,208,344,19,162,22,872,7910,4124,6627,2252,73,6941],"codes":[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],"imageUrls":["\/storage\/images\/resized\/GDnYOu1UpMMfMMRV6Aqle4H0YLLsraeD9IP9qScG_medium.webp","\/storage\/images\/resized\/voXLqlsvTwv5p3iMQ8Dhs95nqB4AXOG7Taj7G4ra_medium.webp","\/storage\/images\/resized\/bRyGpdm98BkAUYiK1YFNpl5Z7hPu6Gd87gbIeuG3_medium.webp","\/storage\/images\/resized\/MjH1ITP7lMYGxeqUZfkt2BnVLgjkk413jwBV97XX_medium.webp","\/storage\/images\/resized\/aFa86lAy63Pq5tYKiOsH017UsgJA6uk6ed66C0Ns_medium.webp","\/storage\/images\/resized\/5YZtvLvkPZuc2JHOaZsjCvGSHFCuC3drUwN3YAc5_medium.webp","\/storage\/images\/resized\/OuA6WPZekwEiUM99mP2pSqj4yHPxHezM6xgLhAjO_medium.webp","\/storage\/images\/resized\/hg4jJjT8wVGtHstBCc0zk465Mg9pLx3G4odCDOqE_medium.webp","\/storage\/images\/resized\/hMjtEcPnOlZu0Qdup5ZFVJML9APp6JeBF0xfZC5e_medium.webp","\/storage\/images\/resized\/4QWA67eqfcfyOiA8Wk7YnqroHFqQbTsmDJUYTCTg_medium.webp","\/storage\/images\/resized\/PRGhlgB4OKRltSNtT39eA6wlnOTGRap1QQ6FQHih_medium.webp","\/storage\/images\/resized\/yNSijlgQghQF53VZuyFLA30CKDe4j3HK74Vtpnxa_medium.webp","\/storage\/images\/resized\/mxFdPe9qujsfvfYfcN0QOclAiYORFb0xrRlwV8gs_medium.webp","\/storage\/images\/resized\/lEA1FyUnFAZR1DchuczZi5bjAixG3TNeWVz6oF4R_medium.webp","\/storage\/images\/resized\/ko5EaisKGm66J1hHXtfEgVEeeWb9uOcMofpNuf0a_medium.webp","\/storage\/images\/resized\/WEXVM2IukNfkmwoqmPhtMKmAeERljKWAbbXmEX7m_medium.webp","","\/storage\/images\/resized\/eIZgkq1MRZyJ3hBkdupnUUv7wgB6zCl9D99SlPN5_medium.webp","\/storage\/images\/resized\/QMhhcrIUiVtFnND3WWZ7hIbu6GYeoRoA2zoVsMEX_medium.webp","\/storage\/images\/resized\/0WrbuCPHoMon4eqSaqLoeO1owjv6jeDiHASSYzbS_medium.webp","\/storage\/images\/resized\/A7oGMwx1m3fFJlKJvQUVra8h0itmEa7JZW0q3Q0b_medium.webp"],"datasets":[{"label":"","data":[18,17,10,6,4,4,3,3,2,2,2,2,2,2,1,1,1,1,1,1,1],"backgroundColor":["#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6","#3B82F6"],"percentage":[18.37,17.35,10.2,6.12,4.08,4.08,3.06,3.06,2.04,2.04,2.04,2.04,2.04,2.04,1.02,1.02,1.02,1.02,1.02,1.02,1.02],"barThickness":13}]},"options":{"indexAxis":"y","maintainAspectRatio":false,"scales":{"y":{"ticks":{"precision":0,"autoSkip":false,"font":{"family":"Montserrat"},"color":"#000000"}},"x":{"ticks":{"stepSize":null,"precision":0,"font":{"family":"Montserrat"},"color":"#000000"}}},"plugins":{"legend":{"position":"top","labels":{"font":{"family":"Montserrat"},"color":"#000000"}},"title":{"display":true,"text":"Publishers","font":{"size":24,"family":"Montserrat","weight":600},"color":"#000000"}}}}}
Metrics
Cite this
GOST |
RIS |
BibTex |
MLA
Cite this
GOST
Copy
Kocak H. et al. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1 // Genes and Development. 2014. Vol. 28. No. 19. pp. 2090-2102.
GOST all authors (up to 50)
Copy
Kocak H., Ballew B. J., Bisht K., Eggebeen R., Hicks B. D., Suman S., Oneil A., Giri N., Maillard I., Alter B. P., Keegan C. E., Nandakumar J., Savage S. A. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1 // Genes and Development. 2014. Vol. 28. No. 19. pp. 2090-2102.
Cite this
RIS
Copy
TY - JOUR
DO - 10.1101/gad.248567.114
UR - https://doi.org/10.1101%2Fgad.248567.114
TI - Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1
T2 - Genes and Development
AU - Kocak, Hande
AU - Ballew, Bari J
AU - Bisht, Kamlesh
AU - Eggebeen, Rebecca
AU - Hicks, Belynda D
AU - Suman, Shalabh
AU - Oneil, Adri
AU - Giri, Neelam
AU - Maillard, Ivan
AU - Alter, Blanche P.
AU - Keegan, Catherine E.
AU - Nandakumar, Jayakrishnan
AU - Savage, Sharon A
PY - 2014
DA - 2014/09/18 00:00:00
PB - Cold Spring Harbor Laboratory
SP - 2090-2102
IS - 19
VL - 28
PMID - 25233904
SN - 0890-9369
SN - 1549-5477
ER -
Cite this
BibTex
Copy
@article{2014_Kocak
author = {Hande Kocak and Bari J Ballew and Kamlesh Bisht and Rebecca Eggebeen and Belynda D Hicks and Shalabh Suman and Adri Oneil and Neelam Giri and Ivan Maillard and Blanche P. Alter and Catherine E. Keegan and Jayakrishnan Nandakumar and Sharon A Savage},
title = {Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1},
journal = {Genes and Development},
year = {2014},
volume = {28},
publisher = {Cold Spring Harbor Laboratory},
month = {sep},
url = {https://doi.org/10.1101%2Fgad.248567.114},
number = {19},
pages = {2090--2102},
doi = {10.1101/gad.248567.114}
}
Cite this
MLA
Copy
Kocak, Hande, et al. “Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.” Genes and Development, vol. 28, no. 19, Sep. 2014, pp. 2090-2102. https://doi.org/10.1101%2Fgad.248567.114.