Evidence for the regional assignment of the red cell adenylate kinase structural gene locus to the long arm of chromosome 9 by gene dosage studies

1976 ◽  
Vol 16 (1-5) ◽  
pp. 302-306 ◽  
Author(s):  
M.A. Ferguson-Smith ◽  
D.A. Aitken
1978 ◽  
Vol 148 (5) ◽  
pp. 1122-1136 ◽  
Author(s):  
W Geckeler ◽  
J Faversham ◽  
M Cohn

We describe here two alleles, an allele of the lambda1 locus present in the SJL strain (rlambda1lo) and an allele of the lambda1 locus present in the BALB/c strain (rlambda1 +), of a regulatory gene locus which specifically influences the expression of the mouse lambda1 light chain structural gene. The rlambda1 regulatory gene is not linked to either the major histocompatibility complex or to the heavy-chain allogroup but appears to be linked to the lambda1 structural gene locus. In the homozygous state, the present of the rlambda1lo allele results in a 50-fold reduction in the number of lambda1 antigen-sensitive, bone-marrow derived lymphocytes (ASCs) compared to the presence of the rlambda1 + allele. However, those few lambda1ASCs present in rlambda1lo homozygotes can be induced normally to produce lambda1 light chains indistinguishable from those found in rlambda1 + homozygotes. The reduction in lambda1ASC's due to the rlambda1lo allele results both in a reduction in the amount of lambda1 Ig in the serum and also in a large variation in the magnitude of the lambda1 antibody response to alpha(1,3) dextran by individual animals. This variation permits the estimate that, on the average, 50 B cells of anti-alpha(1,3) specificity must be present per animal to permit a measurable response. Surprisingly, the expression of a gene locus regulating lambda1 light chain expression (rlambda1 locus) shows a clear gene dosage effect with rlambda1lo/rlambda1 + heterozygotes having 1/2 the number of lambda1ASCs and 1/2 the amount of serum lambda1 Ig as rlambda1 +/rlambda1 + homozygotes. This fact permits an analysis of the relationship between germ-line v-genes and their individual expression in serum Ig. The rlambda1 locus controls specifically a DNA-level event which occurs in stem cells as they become committed to lambda1 light chain expression. We postulate that the rlambda1 locus represents one of the DNA level recognition sites involved in the translocation event which places the vlambda1 and clambda1 structural genes in a transcriptional unit.


1984 ◽  
Vol 19 (3) ◽  
pp. 539-543 ◽  
Author(s):  
Ling Yu Shih ◽  
Lorraine Suslak ◽  
Irit Rosin ◽  
Bernard M. Searle ◽  
Franklin Desposito

1982 ◽  
Vol 33 (4) ◽  
pp. 340-344 ◽  
Author(s):  
E.A. Devine ◽  
M. Smith ◽  
F.X. Arredondo-Vega ◽  
B. Shafit-Zagardo ◽  
R.J. Desnick

Genetics ◽  
1981 ◽  
Vol 97 (3-4) ◽  
pp. 625-637 ◽  
Author(s):  
James A Birchler

ABSTRACT The levels of alcohol dehydrogenase (ADH) do not exhibit a structural gene-dosage effect in a one to four dosage series of the long arm of chromosome one (1L) (BIRCHLER19 79). This phenomenon, termed dosage compensation, has been studied in more detail. Experiments are described in which individuals aneuploid for shorter segments were examined for the level of ADH in order to characterize the genetic nature of the compensation. The relative ADH expression in segmental trisomics and tetrasomics of region IL 0.72–0.90, which includes the Adh locus, approaches the level expected from a strict gene dosage effect. Region IL 0.20–0.72 produces a negative effect upon ADH in a similar manner to that observed with other enzyme levels when IL as a whole is varied (BIRCHLEF1I9 79). These and other comparisons have led to the concept that the compensation of ADH results from the cancellation of the structural gene effect by the negative aneuploid effect. The example of ADH is discussed as a model for certain other cases of dosage compensation in higher eukaryotes.


1976 ◽  
Vol 16 (1-5) ◽  
pp. 326-327
Author(s):  
R.E. Magenis ◽  
R.D. Koler ◽  
E. Lovrien ◽  
R.H. Bigley ◽  
M.C. DuVal ◽  
...  

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