Analysis of Tissue-Specific Expression of Human Type II Collagen cDNA Driven by Different Sizes of the Upstream Region of the β-Casein Promoter

2006 ◽  
Vol 70 (1) ◽  
pp. 93-98 ◽  
Author(s):  
Kenji NARUSE ◽  
Seung Kwon YOO ◽  
Sun Myoung KIM ◽  
Yun Jaie CHOI ◽  
Hong Mie LEE ◽  
...  
1987 ◽  
Vol 84 (9) ◽  
pp. 2803-2807 ◽  
Author(s):  
R. H. Lovell-Badge ◽  
A. Bygrave ◽  
A. Bradley ◽  
E. Robertson ◽  
R. Tilly ◽  
...  

Gene ◽  
1997 ◽  
Vol 193 (2) ◽  
pp. 157-161 ◽  
Author(s):  
Sidney M Morris ◽  
Durga Bhamidipati ◽  
Diane Kepka-Lenhart

1998 ◽  
Vol 141 (6) ◽  
pp. 1291-1300 ◽  
Author(s):  
Keith K.H. Leung ◽  
Ling Jim Ng ◽  
Ken K.Y. Ho ◽  
Patrick P.L. Tam ◽  
Kathryn S.E. Cheah

Expression of the type II collagen gene (human COL2A1, mouse Col2a1) heralds the differentiation of chondrocytes. It is also expressed in progenitor cells of some nonchondrogenic tissues during embryogenesis. DNA sequences in the 5′ flanking region and intron 1 are known to control tissue-specific expression in vitro, but the regulation of COL2A1 expression in vivo is not clearly understood. We have tested the regulatory activity of DNA sequences from COL2A1 on the expression of a lacZ reporter gene in transgenic mice. We have found that type II collagen characteristic expression of the transgene requires the enhancer activity of a 309-bp fragment (+2,388 to +2,696) in intron 1 in conjunction with 6.1-kb 5′ sequences. Different regulatory elements were found in the 1.6-kb region (+701 to +2,387) of intron 1 which only needs 90-bp 5′ sequences for tissue-specific expression in different components of the developing cartilaginous skeleton. Distinct positive and negative regulatory elements act together to control tissue-specific transgene expression in the developing midbrain neuroepithelium. Positive elements affecting expression in the midbrain were found in the region from −90 to −1,500 and from +701 to +2,387, whereas negatively acting elements were detected in the regions from −1,500 to −6,100 and +2,388 to +2,855.


2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Minh Ho ◽  
Brian Thompson ◽  
Jeffrey Nicholas Fisk ◽  
Daniel W. Nebert ◽  
Elspeth A. Bruford ◽  
...  

AbstractIntermediate filament (IntFil) genes arose during early metazoan evolution, to provide mechanical support for plasma membranes contacting/interacting with other cells and the extracellular matrix. Keratin genes comprise the largest subset of IntFil genes. Whereas the first keratin gene appeared in sponge, and three genes in arthropods, more rapid increases in keratin genes occurred in lungfish and amphibian genomes, concomitant with land animal-sea animal divergence (~ 440 to 410 million years ago). Human, mouse and zebrafish genomes contain 18, 17 and 24 non-keratin IntFil genes, respectively. Human has 27 of 28 type I “acidic” keratin genes clustered at chromosome (Chr) 17q21.2, and all 26 type II “basic” keratin genes clustered at Chr 12q13.13. Mouse has 27 of 28 type I keratin genes clustered on Chr 11, and all 26 type II clustered on Chr 15. Zebrafish has 18 type I keratin genes scattered on five chromosomes, and 3 type II keratin genes on two chromosomes. Types I and II keratin clusters—reflecting evolutionary blooms of keratin genes along one chromosomal segment—are found in all land animal genomes examined, but not fishes; such rapid gene expansions likely reflect sudden requirements for many novel paralogous proteins having divergent functions to enhance species survival following sea-to-land transition. Using data from the Genotype-Tissue Expression (GTEx) project, tissue-specific keratin expression throughout the human body was reconstructed. Clustering of gene expression patterns revealed similarities in tissue-specific expression patterns for previously described “keratin pairs” (i.e., KRT1/KRT10, KRT8/KRT18, KRT5/KRT14, KRT6/KRT16 and KRT6/KRT17 proteins). The ClinVar database currently lists 26 human disease-causing variants within the various domains of keratin proteins.


Sign in / Sign up

Export Citation Format

Share Document