Fraser Syndrome (FRAS1, FS1, human chromosome 4q21)

Genomics ◽  
1998 ◽  
Vol 52 (2) ◽  
pp. 205-208 ◽  
Author(s):  
Susan L. Ackerman ◽  
Barbara B. Knowles

2004 ◽  
Vol 83 (8) ◽  
pp. 608-612 ◽  
Author(s):  
H. Seedorf ◽  
I.N. Springer ◽  
E. Grundner-Culemann ◽  
H.-K. Albers ◽  
A. Reis ◽  
...  

Candidate genes for amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are located on 4q21 in humans. We tested our hypothesis that mutations in the portion of mouse chromosome 5 corresponding to human chromosome 4q21 would cause enamel and dentin abnormalities. Male C3H mice were injected with ethylnitrosourea (ENU). Within a dominant ENU mutagenesis screen, a mouse mutant was isolated with an abnormal tooth enamel (ATE) phenotype. The structure and ultrastructure of teeth were studied. The mutation was located on mouse chromosome 5 in an interval of 9 cM between markers D5Mit18 and D5Mit10. Homozygotic mutants showed total enamel aplasia with exposed dentinal tubules, while heterozygotic mutants showed a significant reduction in enamel width. Dentin of mutant mice showed a reduced content of mature collagen cross-links. We were able to demonstrate that a mutation on chromosome 5 corresponding to human chromosome 4q21 can cause amelogenesis imperfecta and changes in dentin composition.


1993 ◽  
Vol 92 (6) ◽  
pp. 629-630 ◽  
Author(s):  
Olaf Riess ◽  
Cornelia Epplen ◽  
Ina Siedlaczck ◽  
J�rg T. Epplen

Author(s):  
Godfrey C. Hoskins

The first serious electron microscooic studies of chromosomes accompanied by pictures were by I. Elvers in 1941 and 1943. His prodigious study, from the manufacture of micronets to the development of procedures for interpreting electron micrographs has gone all but unnoticed. The application of todays sophisticated equipment confirms many of the findings he gleaned from interpretation of images distorted by the electron optics of that time. In his figure 18 he notes periodic arrangement of pepsin sensitive “prickles” now called secondary fibers. In his figure 66 precise regularity of arrangement of these fibers can be seen. In his figure 22 he reproduces Siegbahn's first stereoscopic electron micrograph of chromosomes.The two stereoscopic pairs of electron micrographs of a human chromosome presented here were taken with a metallurgical stage on a Phillips EM200. These views are interpreted as providing photographic evidence that primary fibers (1°F) about 1,200Å thick are surrounded by secondary fibers (2°F) arranged in regular intervals of about 2,800Å in this metanhase human chromosome. At the telomere the primary fibers bend back on themselves and entwine through the center of each of each chromatid. The secondary fibers are seen to continue to surround primary fibers at telomeres. Thus at telomeres, secondary fibers present a surface not unlike that of the side of the chromosome, and no more susceptible to the addition of broken elements from other chromosomes.


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