Molecular evolution and functional divergence of sulfate transporter gene family in plants

2009 ◽  
Author(s):  
Zefeng Yang ◽  
Jinlong Han ◽  
Dan Zhang ◽  
Yan Ao ◽  
Chenwu Xu
Keyword(s):  
Molecular Evolution ◽  
Gene Family ◽  
Functional Divergence ◽  
Transporter Gene ◽  
Sulfate Transporter ◽  
Sulfate Transporter Gene

Molecular evolution and functional divergence of HAK potassium transporter gene family in rice (Oryza sativa L.)

2009 ◽  
Vol 36 (3) ◽  
pp. 161-172 ◽  
Author(s):  
Zefeng Yang ◽  
Qingsong Gao ◽  
Changsen Sun ◽  
Wenjuan Li ◽  
Shiliang Gu ◽  
...  
Keyword(s):  
Oryza Sativa ◽  
Molecular Evolution ◽  
Gene Family ◽  
Oryza Sativa L ◽  
Functional Divergence ◽  
Transporter Gene ◽  
Potassium Transporter

scholarly journals Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene

2015 ◽  
Vol 112 (26) ◽  
pp. 8064-8069 ◽  
Author(s):  
Tao Cai ◽  
Liu Yang ◽  
Wanshi Cai ◽  
Sen Guo ◽  
Ping Yu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Heterozygous Mutation ◽  
Lumbosacral Spine ◽  
Missense Mutations ◽  
Transporter Gene ◽  
Sulfate Transporter ◽  
Disease Network ◽  
Whole Exome ◽  
Intron 1 ◽  
Sulfate Transporter Gene

Spondylolysis is a fracture in part of the vertebra with a reported prevalence of about 3–6% in the general population. Genetic etiology of this disorder remains unknown. The present study was aimed at identifying genomic mutations in patients with dysplastic spondylolysis as well as the potential pathogenesis of the abnormalities. Whole-exome sequencing and functional analysis were performed for patients with spondylolysis. We identified a novel heterozygous mutation (c.2286A > T; p.D673V) in the sulfate transporter gene SLC26A2 in five affected subjects of a Chinese family. Two additional mutations (e.g., c.1922A > G; p.H641R and g.18654T > C in the intron 1) in the gene were identified by screening a cohort of 30 unrelated patients with the disease. In situ hybridization analysis showed that SLC26A2 is abundantly expressed in the lumbosacral spine of the mouse embryo at day 14.5. Sulfate uptake activities in CHO cells transfected with mutant SLC26A2 were dramatically reduced compared with the wild type, confirming the pathogenicity of the two missense mutations. Further analysis of the gene–disease network revealed a convergent pathogenic network for the development of lumbosacral spine. To our knowledge, our findings provide the first identification of autosomal dominant SLC26A2 mutations in patients with dysplastic spondylolysis, suggesting a new clinical entity in the pathogenesis of chondrodysplasia involving lumbosacral spine. The analysis of the gene–disease network may shed new light on the study of patients with dysplastic spondylolysis and spondylolisthesis as well as high-risk individuals who are asymptomatic.

scholarly journals Genome-wide and molecular evolution analysis of the Poplar KT/HAK/KUP potassium transporter gene family

2012 ◽  
Vol 2 (8) ◽  
pp. 1996-2004 ◽  
Author(s):  
Caiyun He ◽  
Kai Cui ◽  
Aiguo Duan ◽  
Yanfei Zeng ◽  
Jianguo Zhang
Keyword(s):  
Molecular Evolution ◽  
Gene Family ◽  
Transporter Gene ◽  
Potassium Transporter ◽  
Evolution Analysis ◽  
Genome Wide

scholarly journals Functional divergence and adaptive selection of KNOX gene family in plants

2020 ◽  
Vol 15 (1) ◽  
pp. 346-363
Author(s):  
Lingyan Meng ◽  
Xiaomei Liu ◽  
Congfen He ◽  
Biyao Xu ◽  
Yaxuan Li ◽  
...  
Keyword(s):  
Amino Acid ◽  
Molecular Evolution ◽  
Gene Family ◽  
Expression Profiles ◽  
Functional Divergence ◽  
Acid Sites ◽  
Knox Gene ◽  
Multiple Sequence ◽  
Coevolution Analysis ◽  
Expansion Model

AbstractKNOTTED-like homeodomain (KNOX) genes are transcriptional regulators that play an important role in morphogenesis. In the present study, a comparative analysis was performed to investigate the molecular evolution of the characteristics of the KNOX gene family in 10 different plant species. We identified 129 KNOX gene family members, which were categorized into two subfamilies based on multiple sequence alignment and phylogenetic tree reconstruction. Several segmental duplication pairs were found, indicating that different species share a common expansion model. Functional divergence analysis identified the 15 and 52 amino acid sites with significant changes in evolutionary rates and amino acid physicochemical properties as functional divergence sites. Additional selection analysis showed that 14 amino acid sites underwent positive selection during evolution, and two groups of co-evolutionary amino acid sites were identified by Coevolution Analysis using Protein Sequences software. These sites could play critical roles in the molecular evolution of the KNOX gene family in these species. In addition, the expression profiles of KNOX duplicated genes demonstrated functional divergence. Taken together, these results provide novel insights into the structural and functional evolution of the KNOX gene family.

Achondrogenesis Type IB

2001 ◽  
Vol 125 (10) ◽  
pp. 1375-1378
Author(s):  
Alessandro Corsi ◽  
Mara Riminucci ◽  
Larry W. Fisher ◽  
Paolo Bianco
Keyword(s):  
Cartilage Matrix ◽  
Endochondral Bone Formation ◽  
Transporter Gene ◽  
Sulfate Transporter ◽  
Matrix Assembly ◽  
Endochondral Bone ◽  
Skeletal Phenotype ◽  
Matrix Organization ◽  
Achondrogenesis Type ◽  
Sulfate Transporter Gene

Abstract Achondrogenesis type IB is a lethal osteochondrodysplasia caused by mutations in the diastrophic dysplasia sulfate transporter gene. How these mutations lead to the skeletal phenotype is not known. Histology of plastic-embedded skeletal fetal achondrogenesis type IB samples suggested that interterritorial epiphyseal cartilage matrix was selectively missing. Cartilage was organized in “chondrons” separated by cleft spaces; chondrocyte seriation, longitudinal septa, and, in turn, mineralized cartilaginous septa were absent. Agenesis of interterritorial matrix as the key histologic change was confirmed by immunohistology using specific markers of territorial and interterritorial matrix. Biglycan-enriched territorial matrix was preserved; decorin-enriched interterritorial areas were absent, although immunostaining was observed within chondrocytes. Thus, in achondrogenesis type IB: (1) a complex derangement in cartilage matrix assembly lies downstream of the deficient sulfate transporter activity; (2) the severely impaired decorin deposition participates in the changes in matrix organization with lack of development of normal interterritorial matrix; and (3) this change determines the lack of the necessary structural substrate for proper endochondral bone formation and explains the severe skeletal phenotype.

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