help button home button
AJRCCM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by DENG, Z.
Right arrow Articles by KNOWLES, J. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by DENG, Z.
Right arrow Articles by KNOWLES, J. A.

Am. J. Respir. Crit. Care Med., Volume 161, Number 3, March 2000, 1055-1059

Fine Mapping of PPH1, a Gene for Familial Primary Pulmonary Hypertension, to a 3-cM Region on Chromosome 2q33

ZEMIN DENG, FATEMEH HAGHIGHI, LETICIA HELLEBY, KISHA VANTERPOOL, EVELYN M. HORN, ROBYN J. BARST, SUSAN E. HODGE, JANE H. MORSE, and JAMES A. KNOWLES

Departments of Genetics and Development, Medicine, Pediatrics, and Psychiatry, and Columbia Genome Center, College of Physicians and Surgeons, Columbia University; Division of Biostatistics, School of Public Health, Columbia University; and New York State Psychiatric Institute, New York, New York

Familial primary pulmonary hypertension (PPH) is a rare autosomal dominant disease characterized by distinctive changes in pulmonary arterioles that lead to increased pulmonary artery pressures, right ventricular failure, and death. Our previous studies had mapped the disease locus, PPH1, to a 27-cM region on chromosome 2q31-q33, with a maximum multipoint logarithm of the odds favoring genetic linkage score of 3.87 with markers D2S350 and D2S364. To narrow the minimal genetic region for PPH, we physically mapped 33 highly polymorphic microsatellite markers and used them to genotype 44 affected individuals and 133 unaffected individuals from 17 families with PPH. We observed recombination events that substantially reduced the interval for PPH1 to the approximately 3-cM region that separates D2S311 and D2S1384. This entire region lies within chromosome 2q33. A maximum two-point lod score of 7.23 at a recombination fraction of zero was obtained for marker D2S307. A maximum multipoint lod score of 7.41 was observed close to marker D2S1367. The current minimal genetic region contains multiple candidate genes for PPH, including a locus thought to play a role in lung cancer. Deng Z, Haghighi F, Helleby L, Vanterpool K, Horn EM, Barst RJ, Hodge SE, Morse JH, Knowles JA. Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33.




This article has been cited by other articles:


Home page
 Ann. N. Y. Acad. Sci.Home page
X. WU, W. SHI, and X. CAO
Multiplicity of BMP Signaling in Skeletal Development
Ann. N.Y. Acad. Sci., November 1, 2007; 1116(1): 29 - 49.
[Abstract] [Full Text] [PDF]

Home page
 CirculationHome page
A. Zakrzewicz, M. Hecker, L. M. Marsh, G. Kwapiszewska, B. Nejman, L. Long, W. Seeger, R. T. Schermuly, N. W. Morrell, R. E. Morty, et al.
Receptor for Activated C-Kinase 1, a Novel Interaction Partner of Type II Bone Morphogenetic Protein Receptor, Regulates Smooth Muscle Cell Proliferation in Pulmonary Arterial Hypertension
Circulation, June 12, 2007; 115(23): 2957 - 2968.
[Abstract] [Full Text] [PDF]

Home page
 Proc Am Thorac SocHome page
N. W. Morrell
Pulmonary Hypertension Due to BMPR2 Mutation: A New Paradigm for Tissue Remodeling?
Proceedings of the ATS, November 1, 2006; 3(8): 680 - 686.
[Abstract] [Full Text] [PDF]

Home page
 J Am Coll CardiolHome page
M. Rindermann, E. Grunig, A. von Hippel, R. Koehler, G. Miltenberger-Miltenyi, D. Mereles, K. Arnold, M. Pauciulo, W. Nichols, H. Olschewski, et al.
Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31
J. Am. Coll. Cardiol., June 18, 2003; 41(12): 2237 - 2244.
[Abstract] [Full Text] [PDF]

Home page
 LupusHome page
J H Morse
Genetic studies of pulmonary arterial hypertension
Lupus, March 1, 2003; 12(3): 209 - 212.
[Abstract] [PDF]

Home page
 ChestHome page
J. H. Morse
Bone Morphogenetic Protein Receptor 2 Mutations in Pulmonary Hypertension
Chest, March 1, 2002; 121(2007): 50S - 53S.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Respir. Crit. Care Med.Home page
M. J. TOBIN
Chronic Obstructive Pulmonary Disease, Pollution, Pulmonary Vascular Disease, Transplantation, Pleural Disease, and Lung Cancer in AJRCCM 2000
Am. J. Respir. Crit. Care Med., November 15, 2001; 164(10): 1789 - 1804.
[Full Text] [PDF]

Home page
 CirculationHome page
N. W. Morrell, X. Yang, P. D. Upton, K. B. Jourdan, N. Morgan, K. K. Sheares, and R. C. Trembath
Altered Growth Responses of Pulmonary Artery Smooth Muscle Cells From Patients With Primary Pulmonary Hypertension to Transforming Growth Factor-{beta}1 and Bone Morphogenetic Proteins
Circulation, August 14, 2001; 104(7): 790 - 795.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Pathol.Home page
J R Thomson and R C Trembath
Primary pulmonary hypertension: the pressure rises for a gene
J. Clin. Pathol., December 1, 2000; 53(12): 899 - 903.
[Abstract] [Full Text] [PDF]

Home page
 CirculationHome page
S. Archer and S. Rich
Primary Pulmonary Hypertension : A Vascular Biology and Translational Research "Work in Progress"
Circulation, November 28, 2000; 102(22): 2781 - 2791.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J. R Thomson, R. D Machado, M. W Pauciulo, N. V Morgan, M. Humbert, G. C Elliott, K. Ward, M. Yacoub, G. Mikhail, P. Rogers, et al.
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
J. Med. Genet., October 1, 2000; 37(10): 741 - 745.
[Abstract] [Full Text]

Home page
 ChestHome page
W. M. Alberts
Too Many Journals, Too Little Time
Chest, July 1, 2000; 118(1): 1 - 1.
[Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Proc. Am. Thorac. Soc. Am. J. Respir. Cell Mol. Biol.
Copyright © 2000 American Thoracic Society