Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies

1978 ◽  
Vol 45 (2) ◽  
pp. 167-173 ◽  
Author(s):  
Maxine Frecker ◽  
L. Dallaire ◽  
S. Robert Young ◽  
Grace C. C. Chen ◽  
Nancy E. Simpson
Keyword(s):  
Gene Dosage ◽  
Chromosome 14 ◽  
Nucleoside Phosphorylase ◽  
Regional Assignment

Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies

1979 ◽  
Vol 50 (3) ◽  
pp. 341-343 ◽  
Author(s):  
B. Dallapiccola ◽  
M. Magnani ◽  
M. Dach� ◽  
P. L. Giorgi
Keyword(s):  
Gene Dosage ◽  
Nucleoside Phosphorylase ◽  
Regional Assignment

Regional assignment of the ADA locus on 20q13.2→qter by gene dosage studies

1980 ◽  
Vol 27 (2-3) ◽  
pp. 187-189 ◽  
Author(s):  
T. Philip ◽  
G. Lenoir ◽  
M.O. Rolland ◽  
I. Philip ◽  
M. Hamet ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Regional Assignment

scholarly journals Loss of secretion in mouse-human hybrids need not be due to the loss of a structural gene.

1982 ◽  
Vol 156 (5) ◽  
pp. 1380-1389 ◽  
Author(s):  
R L Raison ◽  
K Z Walker ◽  
C R Halnan ◽  
D Briscoe ◽  
A Basten
Keyword(s):  
Pokeweed Mitogen ◽  
Optimum Dose ◽  
Structural Genes ◽  
Chromosome 14 ◽  
Human Igg ◽  
Nucleoside Phosphorylase ◽  
Heavy Chains ◽  
Hybrid Lines ◽  
Mouse Myeloma

Three cloned mouse-human lines (B1-29, E2-42, and A2-31) secreting human immunoglobulin (Ig) were obtained from a fusion between the mouse myeloma line NS-1 and human tonsillar lymphocytes stimulated in vitro with pokeweed mitogen. One line, B1-29, has continued to secrete human IgG for a period of 2 yr in culture. This line was recloned three times to give a panel of secreting and nonsecreting subclones. Most of the nonsecreting subclones had also lost surface Ig. The structural genes for human Ig heavy chains have been provisionally assigned to chromosome 14, which also encodes the enzyme nucleoside phosphorylase. Human nucleoside phosphorylase was detected in all secreting and nonsecreting B1-29 subclones, indicating the presence of human chromosome 14. The retention of chromosome 14 in nonsecreting clones implied that the structural genes for human Ig were A2-31 and E2-42, which had stopped secreting, an attempt was made to restimulate the secreting of human Ig with mitogens A2-31 was unique among the cell lines examined, in that chromosome 14 could not be detected by an isoenzyme marker. Lipopolysaccharide, at an optimum dose of 10 micrograms/ml, restimulated these nonsecreting hybrid lines to secrete human IgG in levels up to 0.7 micrograms/ml. Loss of Ig secretion may not therefore be caused by loss of Ig structural genes.

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2→8qter

1988 ◽  
Vol 80 (3) ◽  
pp. 299-300 ◽  
Author(s):  
Jorge Rocha ◽  
António Amorim ◽  
Vasco M. Almeida ◽  
João P. Oliveira ◽  
Miguel Leão ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Glutamate Pyruvate Transaminase ◽  
Glutamate Pyruvate ◽  
Regional Assignment

Family studies on nucleoside phosphorylase and the short arm of chromosome 14

1981 ◽  
Vol 45 (3) ◽  
pp. 253-260 ◽  
Author(s):  
P. J. L. COOK ◽  
E. B. ROBSON ◽  
P. A. ROGERS ◽  
J. E. NOADES ◽  
K. E. BUCKTON ◽  
...  
Keyword(s):  
Family Studies ◽  
Chromosome 14 ◽  
Nucleoside Phosphorylase

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

2020 ◽  
Vol 160 (3) ◽  
pp. 124-133
Author(s):  
Amal M. Mohamed ◽  
Maha M. Eid ◽  
Ola M. Eid ◽  
Shymaa H. Hussein ◽  
Aida M. Mossaad ◽  
...  
Keyword(s):  
Cell Lines ◽  
Buccal Mucosa ◽  
Gene Dosage ◽  
Uniparental Disomy ◽  
X Inactivation ◽  
Fish Analysis ◽  
Snp Analysis ◽  
Chromosome 14 ◽  
Skewed X Inactivation ◽  
Mosaic Trisomy

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH for blood and buccal mucosa showed high mosaic trisomy 14 and an Xq deletion. MLPA detected trisomy 14 in blood and buccal mucosa and also showed normal methylation of the imprinting center. FISH analysis confirmed the cell line with trisomy 14 (30%) and demonstrated the mosaic deletion of the Xq subtelomere in both tissues. There was 100% skewed X inactivation for the t(X;14). SNP analysis of the patient showed no region of loss of heterozygosity on chromosome 14. Also, genotype call analysis of the patient and her parents showed heterozygous alleles of chromosome 14 with no evidence of uniparental disomy. Our patient had a severe form of mosaic trisomy 14. We suggest that this cytogenetic unique finding that involved 2 cell lines with structural abnormalities of chromosome 14 occurred in an early postzygotic division. These 2 events may have happened separately or maybe there is a kind of trisomy or monosomy rescue due to dynamic cytogenetic interaction between different cell lines to compensate for gene dosage.

Purine nucleoside phosphorylase (Np) in the mouse: Linkage relationship of Np-2 to esterase-10 (Es-10) and Np-1 on chromosome 14

1985 ◽  
Vol 23 (3-4) ◽  
pp. 347-356 ◽  
Author(s):  
Trevor Lukey ◽  
Kuldeep Neote ◽  
John F. Loman ◽  
Ardythe E. Unger ◽  
Fred G. Biddle ◽  
...  
Keyword(s):  
Purine Nucleoside Phosphorylase ◽  
Purine Nucleoside ◽  
Chromosome 14 ◽  
Linkage Relationship ◽  
Nucleoside Phosphorylase ◽  
Relationship Of
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