Taxonomic distribution of proteins containing FSA_C domains

The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing FSA_C domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.

A genome-wide association study for celiac disease identifies risk variants inthe region harboring IL2 and IL21.

van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, Wapenaar MC, Barnardo MC, Bethel G, Holmes GK, Feighery C, Jewell D, Kelleher D, Kumar P, Travis S, Walters JR, Sanders DS, Howdle P, Swift J, Playford RJ, McLaren WM, Mearin ML, Mulder CJ, McManus R, McGinnis R, Cardon LR, Deloukas P, Wijmenga C
Nat Genet. 2007; 39: 827-9

We tested 310,605 SNPs for association in 778 individuals with celiac disease and1,422 controls. Outside the HLA region, the most significant finding (rs13119723;P = 2.0 x 10(-7)) was in the KIAA1109-TENR-IL2-IL21 linkage disequilibrium block.We independently confirmed association in two further collections (strongestassociation at rs6822844, 24 kb 5' of IL21; meta-analysis P = 1.3 x 10(-14), oddsratio = 0.63), suggesting that genetic variation in this region predisposes toceliac disease.

G8: a novel domain associated with polycystic kidney disease and non-syndromichearing loss.

He QY, Liu XH, Li Q, Studholme DJ, Li XW, Liang SP
Bioinformatics. 2006; 22: 2189-91

We report a novel protein domain-G8-which contains five repeated beta-strandpairs and is present in some disease-related proteins such as PKHD1, KIAA1199,TMEM2 as well as other uncharacterized proteins. Most G8-containing proteins are predicted to be membrane-integral or secreted. The G8 domain may be involved inextracellular ligand binding and catalysis. It has been reported that mis-sensemutations in the two G8 domains of human PKHD1 protein resulted in a less stable protein and are associated with autosomal-recessive polycystic kidney disease,indicating the importance of the domain structure. G8 is also present in theN-terminus of some non-syndromic hearing loss disease-related proteins such asKIAA1109 and TMEM2. Discovery of G8 domain will be important for the research of the structure/function of related proteins and beneficial for the development of novel therapeutics. Contact: liangsp@hunnu.edu.cn

Molecular cloning of Chinese hamster 1q31 chromosomal fragile site DNA that isimportant to mdr1 gene amplification reveals a novel gene whose expression isassociated with spermatocyte and adipocyte differentiation.

Wei Y, Lin-Lee YC, Yang X, Dai W, Zhao S, Rassool FV, Elgart GW, Feun L, Savaraj N, Kuo MT
Gene. 2006; 372: 44-52

DNA amplification plays important roles in the development of drug resistance andtumor progression. One mechanism of DNA amplification involves thebreakage-fusion-bridge (BFB) cycle. We previously reported that in Chinesehamster ovary (CHO) cell line, breakage at fragile site 1q31 was associated with mdr1 gene amplification through the BFB mechanism. To elucidate the molecularbasis of BFB-mediated DNA amplification, we cloned 1q31 fragile site DNA from aChinese hamster cell line containing an integrated neomycin-resistance marker.Sequence analyses revealed many characteristics similar to those in other common fragile sites. Moreover, this fragile site contains an evolutionarily conservednovel gene, designated fragile site-associated (FSA) gene. FSA encodes aapproximately 16-kb mRNA, from which an unusually large open reading frame (orf) of 5005 amino acids can be deduced. The C-terminal portion of FSA shares astriking sequence similarity to that of Caenorhabditi elegans lipid depleted-3(lpd-3) gene whose function has been demonstrated to involve in lipid storage. Wealso demonstrated that expression of FSA is associated with the developmentalprograms of spermatogenesis and adipogenesis. Our results suggest that theChinese hamster 1q31 fragile site has many important functions includingregulation of mdr1 amplification and differentiation of adipocytes andspermatocytes.