지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 847 - 854 (8page)
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초록· 키워드
오류제보하기
Background Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare skeletal dysplasia following autosomal recessive mode of inheritance and characterized by abnormal growth plates, short and abnormal bones in the extremities and spine. Objective Present study was designed to report the molecular basis of AMDM in enrolled consanguineous family from Pakistan. Methods A consanguineous family from Vehari District in Pakistan having multiple siblings suffering from AMDM was enrolled in present study. Whole exome sequencing (WES) approach was adopted to identify causative agent of AMDM. Human full length NPR2 gene and sequence with nonsense mutation was amplified by using Myc-tagged pXN vector and transformed in E. coli DH5α cells to confirm mutation. SDS-PAGE and Western blotting were done to confirm the production of truncated protein. Computational three dimensional structure generation through homology modeling approach was done to compare protein structure between patients and controls. Results WES reveled a nonsense mutation (c.613 C>T, p.R205X) in exon 1 of NPR2 gene leading to premature termination codon in mRNA of NPR2 gene resulting in a truncated protein with 204 amino acid residues that was confirmed by SDSPAGE and Western blotting. Sanger sequencing confirmed that mutation in all subjects and mutation followed Mendalian pattern of inheritance. Multiple sequence alignment by ClustalW revealed that mutated domain of NPR2 is conserved region. Proetin structure comparison revealed a significant structural part of NPR2 was missing in truncated protein as compared to control. Conclusion We are reporting that a novel nonsense mutation (c.613 C>T, p.R205X) in exon 1 of NPR2 gene is causing AMDM in a consanguineous Pakistani family.
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등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Bartels CF / 2004 / Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux / Am J Human Genet 75:27~34
Chusho H / 2001 / Dwarfism and early death in mice lacking C-type natriuretic peptide / Proc Nat Acad Sci USA 98:4016~4021
Hachiya R / 2007 / Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development / J Clin Endocrinol Metabol 92:4009~4014
Hassan M / 2017 / Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence / Mol Biol Syst 13:1534~1544
Irfanullah UM / 2015 / Homozygous sequence variants in the NPR2 gene underlying acromesomelic dysplasia maroteaux type(AMDM)in consanguineous families / Ann Hum Genet 79:238~244
Chusho H / 2001 / Dwarfism and early death in mice lacking C-type natriuretic peptide / Proc Nat Acad Sci USA 98:4016~4021
Hachiya R / 2007 / Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development / J Clin Endocrinol Metabol 92:4009~4014
Hassan M / 2017 / Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence / Mol Biol Syst 13:1534~1544
Irfanullah UM / 2015 / Homozygous sequence variants in the NPR2 gene underlying acromesomelic dysplasia maroteaux type(AMDM)in consanguineous families / Ann Hum Genet 79:238~244
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