scholarly journals Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse

1981 ◽  
Vol 38 (3) ◽  
pp. 337-341 ◽  
Author(s):  
Mary F. Lyon ◽  
Susan E. Jarvis ◽  
Irene Sayers ◽  
Roger S. Holmes
Keyword(s):  
Congenital Cataract ◽  
New Method ◽  
Lens Opacity ◽  
Mutation Rates ◽  
Mouse Mutant ◽  
Chromosome 10 ◽  
Point Of Interest ◽  
New Gene ◽  
Medical Importance ◽  
Mutant Genes

Mouse mutant genes which result in defects similar to those of medical importance in man may be of value as models for the study of the defect concerned. We report here a new gene causing congenital cataract in the mouse, which may be useful in the understanding of cataract in man.A further point of interest is that Kratochvilova & Ehling (1979) have recently developed a new method of measuring increased mutation rates in the mouse, by examining offspring of animals treated with mutagens for the presence of cataracts due to mutant genes. For the purposes of this test it is valuable to have information on the number and map position of loci which can mutate to give cataracts.

IOL implantation with a new method of fixation — «bag-in-the-lens» in phacoaspiration of congenital cataract in children

2009 ◽  
Vol 22 (6) ◽  
pp. 9-16
Author(s):  
N. Bobrova ◽  
◽  
M. Tassignon ◽  
B. Lorenz ◽  
A. Dembovetskaya ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
New Method ◽  
Iol Implantation

Rescue of developmental lens abnormalities in chimaeras of noncataractous and congenital cataractous mice

Development ◽  
1987 ◽  
Vol 99 (4) ◽  
pp. 473-480
Author(s):  
A.L. Muggleton-Harris ◽  
K. Hardy ◽  
N. Higbee
Keyword(s):  
Medical Research ◽  
Congenital Cataract ◽  
Biochemical Analysis ◽  
Growth Regulation ◽  
Cellular Level ◽  
Model System ◽  
Mouse Mutant ◽  
Phenotypic Characteristics ◽  
Cataractous Lens ◽  
Mouse Lens

In the study of the lens of a congenital cataractous mouse mutant (CAT), it has been shown that a loss of growth regulation at the cellular level causes gross lens abnormalities. The phenotypic characteristics of the cataractous mouse lens are similar to those seen in human congenital cataract and thus serves as a model system for medical research. In this present investigation, we have demonstrated that the abnormalities of the congenital cataractous lens can be rescued by forming chimaeras between DBA/2 (a noncataractous strain of mouse) and the CAT mutant. This report describes the histological, cellular and biochemical analysis of the resultant chimaeric eyes, and discusses possible mechanisms by which these results were achieved.

scholarly journals A gene location for the inheritance of the Cataract Fraser (CatFr) mouse congenital cataract

1987 ◽  
Vol 49 (3) ◽  
pp. 235-238 ◽  
Author(s):  
A. L. Muggleton-Harris ◽  
M. F. W. Festing ◽  
M. Hall
Keyword(s):  
Animal Models ◽  
Medical Research ◽  
Genetic Background ◽  
Congenital Cataract ◽  
Gene Location ◽  
Chromosome 10 ◽  
Molecular Aspects

SummaryAnimal models which emulate defects similar to those in man are required for medical research. Many investigations on the cellular, developmental and molecular aspects of cataractogenesis use the cataract Fraser (CatFr) mouse. This report shows that the CatFT and Lop lens abnormalities are linked, and are probably allelic genes on chromosome 10. It also shows that the CatFT gene is maintained on an inbred genetic background which differs from 79 other strains; it is proposed that this strain be named CAT.

scholarly journals A novel human homeobox gene lies at the chromosome 10 breakpoint in lymphoid neoplasias with chromosomal translocation t(10;14)

Blood ◽  
1991 ◽  
Vol 78 (11) ◽  
pp. 2996-3003 ◽  
Author(s):  
ID Dube ◽  
S Kamel-Reid ◽  
CC Yuan ◽  
M Lu ◽  
X Wu ◽  
...  
Keyword(s):  
T Cell ◽  
Human Cancer ◽  
Homeobox Gene ◽  
Chromosomal Translocation ◽  
Cell Receptor ◽  
Leukemic Cells ◽  
Chain Gene ◽  
Chromosome 10 ◽  
New Gene ◽  
Tcr Diversity

Abstract The translocation t(10;14)(q24;q11) is an acquired change seen in 4% to 7% of T-cell acute lymphoblastic leukemias (T-ALL). We previously demonstrated that the translocation juxtaposes the T-cell receptor (TCR) delta-chain gene in chromosome 14q11 with a novel region in chromosome 10q24 and is likely catalyzed by recombinases normally involved in the generation of immunoglobulin and TCR diversity. We now present the sequence of a gene on chromosome 10 that lies immediately telomeric of the breakpoints in nine new ALL patients with acquired rearrangements in 10q24. The gene is a novel human homeobox gene and is expressed in leukemic cells from ALL patients with rearrangements in a defined chromosome 10 breakpoint cluster region, but not in other adult tissues or cell lines. This new gene has been designated HOX11. Our results strongly support a role for homeobox genes in oncogenesis and may represent the first example of a human cancer in which deregulated expression of an unaltered homeobox gene is involved in tumorigenesis.

scholarly journals A Novel Congenital Cataract Category System Based on Lens Opacity Locations and Relevant Anterior Segment Characteristics

2016 ◽  
Vol 57 (14) ◽  
pp. 6389 ◽  
Author(s):  
Haotian Lin ◽  
Duoru Lin ◽  
Zhenzhen Liu ◽  
Erping Long ◽  
Xiaohang Wu ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Anterior Segment ◽  
Lens Opacity ◽  
Category System

scholarly journals The infrared reflex: a potential new method for congenital cataract screening

Eye ◽  
2019 ◽  
Vol 33 (12) ◽  
pp. 1865-1870 ◽  
Author(s):  
Amedine Duret ◽  
Robert Humphries ◽  
Sushmita Ramanujam ◽  
Anna te Water Naudé ◽  
Conor Reid ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
New Method

scholarly journals Expression of theEscherichia coli ftsZgene: trials and tribulations of gene fusion studies

1993 ◽  
Vol 61 (1) ◽  
pp. 1-8
Author(s):  
Aline Robin ◽  
Richard D'Ari
Keyword(s):  
Gene Fusion ◽  
Open Reading Frame ◽  
Mutation Rates ◽  
Base Substitution ◽  
Reading Frame ◽  
E Coli ◽  
New Gene ◽  
Cell Division Protein ◽  
Selection For ◽  
Substitution Mutation

SummaryTheftsZgene ofEscherichia coli, which codes for an essential cell division protein, is subjected to multiple regulation, as shown in part with studies using anftsZ::lacZoperon fusion located on phage λJFLIOO. Using this same fusion, we sought to isolate regulatory mutants overexpressingftsZby selecting mutants able to grow on lactose. One Lac+mutant was obtained which overexpressed theftsZ::lacZfusion 70-fold. The mutation responsible for the overexpression lies in a new gene,cot, located near 56 min on theE. coligenetic map. Thecotmutation probably affects the transcription of a chromosomal open reading frame, 0RF1, lying downstream of thebioAgene and adjacent to theftzZ::lacZfusion of the λJFL100 prophage integrated atattλ. Using anftsZ84(Ts) strain, in which there was a double selection for overexpression of bothftsZ::lacZandftsZ+, no Lac+Tr mutants were obtained from 3·6 × 1010bacteria; the introduction of amutLallele, increasing spontaneous base substitution mutation rates 75-fold, did not permit us to isolate such a mutant. We conclude that Lac+ftsZ-constitutive mutations cannot be obtained in λJFL100 lysogens by a single base substitution.

scholarly journals A novel human homeobox gene lies at the chromosome 10 breakpoint in lymphoid neoplasias with chromosomal translocation t(10;14)

Blood ◽  
1991 ◽  
Vol 78 (11) ◽  
pp. 2996-3003 ◽  
Author(s):  
ID Dube ◽  
S Kamel-Reid ◽  
CC Yuan ◽  
M Lu ◽  
X Wu ◽  
...  
Keyword(s):  
T Cell ◽  
Human Cancer ◽  
Homeobox Gene ◽  
Chromosomal Translocation ◽  
Cell Receptor ◽  
Leukemic Cells ◽  
Chain Gene ◽  
Chromosome 10 ◽  
New Gene ◽  
Tcr Diversity

The translocation t(10;14)(q24;q11) is an acquired change seen in 4% to 7% of T-cell acute lymphoblastic leukemias (T-ALL). We previously demonstrated that the translocation juxtaposes the T-cell receptor (TCR) delta-chain gene in chromosome 14q11 with a novel region in chromosome 10q24 and is likely catalyzed by recombinases normally involved in the generation of immunoglobulin and TCR diversity. We now present the sequence of a gene on chromosome 10 that lies immediately telomeric of the breakpoints in nine new ALL patients with acquired rearrangements in 10q24. The gene is a novel human homeobox gene and is expressed in leukemic cells from ALL patients with rearrangements in a defined chromosome 10 breakpoint cluster region, but not in other adult tissues or cell lines. This new gene has been designated HOX11. Our results strongly support a role for homeobox genes in oncogenesis and may represent the first example of a human cancer in which deregulated expression of an unaltered homeobox gene is involved in tumorigenesis.

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