scholarly journals A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes

2021 ◽  
Author(s):  
Shoko Asano ◽  
Saori Sako ◽  
Yuka Funasaki ◽  
Yumie Takeshita ◽  
Yo Niida ◽  
...  
Keyword(s):  
X Chromosome ◽  
Hypophosphatemic Rickets ◽  
Chromosome I

Flow sorting of the mouse Cattanach X chromosome, T (X; 7) 1 Ct, in an active or inactive state

1981 ◽  
Vol 29 (4) ◽  
pp. 189-197 ◽  
Author(s):  
C.M. Disteche ◽  
A.V. Carrano ◽  
L.K. Ashworth ◽  
K. Burkhart-Schultz ◽  
S.A. Latt
Keyword(s):  
X Chromosome ◽  
Inactive State ◽  
Flow Sorting ◽  
Chromosome I

scholarly journals Controlling elements in the mouse X-chromosome: I. Interaction with the X-linked genes

1969 ◽  
Vol 14 (3) ◽  
pp. 223-235 ◽  
Author(s):  
B. M. Cattanach ◽  
C. E. Pollard ◽  
J. N. Perez
Keyword(s):  
X Chromosome ◽  
Position Effect ◽  
The State ◽  
Position Effect Variegation ◽  
Autosome Translocation ◽  
Effect Variegation ◽  
Controlling Elements ◽  
Controlling Element ◽  
Chromosome I ◽  
Partial Reversal

The mouse X-chromosome controlling elements, detected by their influence on the position effect variegation caused by the X-autosome translocation T (1; X) Ct, have been found to modify the heterozygous phenotypes of two X-linked genes. It is proposed that X-inactivation can be incomplete, the level of inactivation or the frequency of cells in which inactivation is incomplete being dependent upon the ‘state’ of the controlling element located in the X. The data suggest that this is a consequence of a reversal, or partial reversal, of inactivation of the X as a whole in some cells rather than a vairable spread of inactivation along the length of the X.

Spontaneous duplication loss and breakage in Caenorhabditis elegans

Genome ◽  
1994 ◽  
Vol 37 (4) ◽  
pp. 595-606
Author(s):  
Kim S. McKim ◽  
Ann M. Rose
Keyword(s):  
Caenorhabditis Elegans ◽  
X Chromosome ◽  
Fragile Site ◽  
Ring Chromosome ◽  
Chromosome Breakage ◽  
Chromosome Loss ◽  
Spontaneous Breakage ◽  
Ring Chromosomes ◽  
Ring Structures ◽  
Chromosome I

Duplications in Caenorhabditis elegans spontaneously delete at frequencies ranging from 10−4 to 10−5. We have analyzed the structure and mitotic stability of 33 deleted duplications resulting from spontaneous breakage events. (i) Breakage usually occurred at a variety of sites; that is, there were no hot spots for breakage. An exception was the spontaneous breakage of the X chromosome into which hDp14 was inserted. These breaks were close to or at the site of the chromosome I insertion; therefore, the insertion created a type of fragile site. (ii) Spontaneous duplications often had complex structures. In some cases, their structures were most simply resolved by proposing that the progenitor duplication was a ring chromosome with a superimposed inversion. Most of the proposed ring chromosomes were mitotically unstable, suggesting that ring structures increase the frequency of chromosome loss, (iii) Clusters of spontaneous deletion events were rarely observed, suggesting that the majority of spontaneous breakage events probably occurred during meiosis. (iv) A minority of the spontaneous breakage events were associated with linkage to an autosome. Like free duplications of chromosome I, these linked duplications tended to segregate from the X chromosome in males. (v) Three meiotic mutants, him-3, him-6, and him-8, had no effect on somatic loss of the duplications but did reduce the frequency of breakage events. Given the conclusion that chromosome breakage is a meiotic event, these data are consistent with the function of the three meiotic genes being restricted to meiosis.Key words: chromosome structure, duplication, mitosis, meiosis, Caenorhabditis species.

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