Genetic Effect of Transforming Growth Factor Alpha Gene Variants on the Risk of Nonsyndromic Cleft Lip with or without Palate in Korean Populations

2015 ◽  
Vol 52 (3) ◽  
pp. 293-300 ◽  
Author(s):  
Bo-Mi Kim ◽  
Young Ho Kim ◽  
Dong-Hyun Kim ◽  
Ji Wan Park ◽  
Seung-Hak Baek
Keyword(s):  
Growth Factor ◽  
Cleft Lip ◽  
Transforming Growth Factor ◽  
Genetic Effect ◽  
Transforming Growth Factor Alpha ◽  
Gene Variants ◽  
Factor Alpha ◽  
Alpha Gene

Transforming growth factor alpha: an aromatic side chain at position 38 is essential for biological activity

1989 ◽  
Vol 9 (2) ◽  
pp. 860-864
Author(s):  
E Lazar ◽  
E Vicenzi ◽  
E Van Obberghen-Schilling ◽  
B Wolff ◽  
S Dalton ◽  
...  
Keyword(s):  
Biological Activity ◽  
Growth Factor ◽  
Disulfide Bonds ◽  
Transforming Growth Factor ◽  
Site Directed Mutagenesis ◽  
Side Chain ◽  
Transforming Growth Factor Alpha ◽  
Aromatic Side Chain ◽  
Factor Alpha ◽  
Alpha Gene

Site-directed mutagenesis has been performed in the human transforming growth factor alpha gene. When tyrosine 38 is mutated into phenylalanine or tryptophane, biological activity is retained. In contrast, other alterations between cysteine 34 and cysteine 43 and disruption of disulfide bonds 8 to 21 and 34 to 43 resulted in loss of activities. The presence of an aromatic side chain at position 38 of transforming growth factor alpha seems to be essential for its activity.

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