The Tight-Skin (Tsk) Mutation, Chromosome 2

2020 ◽  
pp. 463-470
Author(s):  
John P. Sundberg
Keyword(s):  
Chromosome 2 ◽  
Tight Skin

The tight-skin (Tsk) mutation is closely linked to B2m on mouse Chromosome 2

1994 ◽  
Vol 5 (1) ◽  
pp. 55-57 ◽  
Author(s):  
E. T. Everett ◽  
J. L. Pablos ◽  
S. E. Harris ◽  
E. C. LeRoy ◽  
J. S. Norris
Keyword(s):  
Mouse Chromosome ◽  
Chromosome 2 ◽  
Tight Skin ◽  
Mouse Chromosome 2

The Tight Skin (Tsk) Mutation in the Mouse, a Model for Human Fibrotic Diseases, Is Tightly Linked to the β2-Microglobulin (B2m) Gene on Chromosome 2

Genomics ◽  
1993 ◽  
Vol 17 (3) ◽  
pp. 748-751 ◽  
Author(s):  
Linda D. Siracusa ◽  
Paul Christner ◽  
Rodney McGrath ◽  
Sheryl D. Mowers ◽  
Kelly K. Nelson ◽  
...  
Keyword(s):  
Chromosome 2 ◽  
Β2 Microglobulin ◽  
Tight Skin ◽  
Fibrotic Diseases

Mapping of the prolactin gene to chicken chromosome 2

1999 ◽  
Vol 30 (6) ◽  
pp. 462-478 ◽  
Author(s):  
Y-W Miao ◽  
D W Burt ◽  
I R Paton ◽  
P J Sharp ◽  
I C Dunn
Keyword(s):  
Chromosome 2 ◽  
Chicken Chromosome ◽  
Prolactin Gene

scholarly journals Recombinant inbred strain and interspecific backcross analysis of molecular markers flanking the murine agouti coat color locus.

Genetics ◽  
1989 ◽  
Vol 122 (3) ◽  
pp. 669-679
Author(s):  
L D Siracusa ◽  
A M Buchberg ◽  
N G Copeland ◽  
N A Jenkins
Keyword(s):  
Molecular Markers ◽  
Inbred Strain ◽  
Mouse Chromosome ◽  
Recombinant Inbred ◽  
Recombinant Inbred Strain ◽  
Interspecific Backcross ◽  
Chromosome 2 ◽  
Chromosome 4 ◽  
Agouti Locus ◽  
Mouse Chromosome 2

Abstract Recombinant inbred strain and interspecific backcross mice were used to create a molecular genetic linkage map of the distal portion of mouse chromosome 2. The orientation and distance of the Ada, Emv-13, Emv-15, Hck-1, Il-1a, Pck-1, Psp, Src-1 and Svp-1 loci from the beta 2-microglobulin locus and the agouti locus were established. Our mapping results have provided the identification of molecular markers both proximal and distal to the agouti locus. The recombinants obtained provide valuable resources for determining the direction of chromosome walking experiments designed to clone sequences at the agouti locus. Comparisons between the mouse and human genome maps suggest that the human homolog of the agouti locus resides on human chromosome 20q. Three loci not present on mouse chromosome 2 were also identified and were provisionally named Psp-2, Hck-2 and Hck-3. The Psp-2 locus maps to mouse chromosome 14. The Hck-2 locus maps near the centromere of mouse chromosome 4 and may identify the Lyn locus. The Hck-3 locus maps near the distal end of mouse chromosome 4 and may identify the Lck locus.

scholarly journals cot1: A Regulator of Arabidopsis Trichome Initiation

Genetics ◽  
1998 ◽  
Vol 149 (2) ◽  
pp. 565-577
Author(s):  
Daniel B Szymanski ◽  
Daniel A Klis ◽  
John C Larkin ◽  
M David Marks
Keyword(s):  
Cell Fate ◽  
Gene Dosage ◽  
Signal Transduction Pathway ◽  
Spatial Arrangement ◽  
Complex Signal ◽  
Chromosome 2 ◽  
Wild Type ◽  
Trichome Formation ◽  
In The Wild ◽  
Leaf Trichome

Abstract In Arabidopsis, the timing and spatial arrangement of trichome initiation is tightly regulated and requires the activity of the GLABROUS1 (GL1) gene. The COTYLEDON TRICHOME 1 (COT1) gene affects trichome initiation during late stages of leaf development and is described in this article. In the wild-type background, cot1 has no observable effect on trichome initiation. GL1 overexpression in wild-type plants leads to a modest number of ectopic trichomes and to a decrease in trichome number on the adaxial leaf surface. The cot1 mutation enhances GL1-overexpression-dependent ectopic trichome formation and also induces increased leaf trichome initiation. The expressivity of the cot1 phenotype is sensitive to cot1 and 35S::GL1 gene dosage, and the most severe phenotypes are observed when cot1 and 35S::GL1 are homozygous. The COT1 locus is located on chromosome 2 15.3 cM north of er. Analysis of the interaction between cot1, try, and 35S::GL1 suggests that COT1 is part of a complex signal transduction pathway that regulates GL1-dependent adoption of the trichome cell fate.

scholarly journals Epistatic Control of Non-Mendelian Inheritance in Mouse Interspecific Crosses

Genetics ◽  
1996 ◽  
Vol 143 (4) ◽  
pp. 1739-1752 ◽  
Author(s):  
Xavier Montagutelli ◽  
Rowena Turner ◽  
Joseph H Nadeau
Keyword(s):  
X Chromosome ◽  
Genetic Basis ◽  
Mendelian Inheritance ◽  
The Other ◽  
Interspecific Crosses ◽  
Chromosome 2 ◽  
Mus Spretus ◽  
F1 Hybrid ◽  
Strong Deviation ◽  
Marker Loci

Abstract Strong deviation of allele frequencies from Mendelian inheritance favoring Mus spretus-derived alleles has been described previously for X-linked loci in four mouse interspecific crosses. We reanalyzed data for three of these crosses focusing on the location of the gene(s) controlling deviation on the X chromosome and the genetic basis for incomplete deviation. At least two loci control deviation on the X chromosome, one near Xist (the candidate gene controlling X inactivation) and the other more centromerically located. In all three crosses, strong epistasis was found between loci near Xist and marker loci on the central portion of chromosome 2. The mechanism for this deviation from Mendelian expectations is not yet known but it is probably based on lethality of embryos carrying particular combinations of alleles rather than true segregation distortion during oogenesis in F1 hybrid females.

scholarly journals Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

2021 ◽  
Vol 22 (15) ◽  
pp. 7842
Author(s):  
Susanne Kohl ◽  
Britta Baumann ◽  
Francesca Dassie ◽  
Anja K. Mayer ◽  
Maria Solaki ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Molecular Genetic ◽  
Retinal Disease ◽  
Underlying Mechanism ◽  
Recurrence Risk ◽  
Molecular Genetic Analysis ◽  
Recessive Mutation ◽  
Chromosome 2 ◽  
Inherited Retinal Disease ◽  
Uniparental Isodisomy

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, or ATF6. We undertook molecular genetic analysis in a single female patient with a clinical diagnosis of ACHM and identified the homozygous variant c.778G>C;p.(D260H) in the CNGA3 gene. While segregation analysis in the father, as expected, identified the CNGA3 variant in a heterozygous state, it could not be displayed in the mother. Microsatellite marker analysis provided evidence that the homozygosity of the CNGA3 variant is due to partial or complete paternal uniparental isodisomy (UPD) of chromosome 2 in the patient. Apart from the ACHM phenotype, the patient was clinically unsuspicious and healthy. This is one of few examples proving UPD as the underlying mechanism for the clinical manifestation of a recessive mutation in a patient with inherited retinal disease. It also highlights the importance of segregation analysis in both parents of a given patient or especially in cases of homozygous recessive mutations, as UPD has significant implications for genetic counseling with a very low recurrence risk assessment in such families.

High Frequency Recombination During the Sexual Cycle of Dictyostelium discoideum

Genetics ◽  
1998 ◽  
Vol 148 (4) ◽  
pp. 1829-1832 ◽  
Author(s):  
David Francis
Keyword(s):  
Dictyostelium Discoideum ◽  
Genetic Map ◽  
High Frequency ◽  
Cell Biology ◽  
Physical Map ◽  
Genetic System ◽  
Sexual Cycle ◽  
Chromosome 2 ◽  
New Combinations ◽  
Restriction Sites

Abstract Analysis of Dictyostelium development and cell biology has suffered from the lack of an ordinary genetic system whereby genes can be arranged in new combinations. Genetic exchange between two long ignored strains, A2Cycr and WS205 is here reexamined. Alleles which differ in size or restriction sites between these two strains were found for seven genes. Six of these are in two clusters on chromosome 2. Frequencies of recombinant progeny indicate that the genetic map of the two mating strains is colinear with the physical map recently worked out for the standard nonsexual strain, NC4. The rate of recombination is high, about 0.1% per kilobase in three different regions of chromosome 2. This value is comparable to rates found in yeast, and will permit fine dissection of the genome.

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