Effect of Selection on Whaxy: An Autosomal Dominant Mutation in the Screw- Worm Fly with Recessive Lethal Effects

1965 ◽  
Vol 99 (904) ◽  
pp. 47-57
Author(s):  
Leo E. LaChance ◽  
D. E. Hopkins
Keyword(s):  
Autosomal Dominant ◽  
Dominant Mutation ◽  
Lethal Effects ◽  
Recessive Lethal

LINKAGE STUDIES IN TRIBOLIUM CASTANEUM. XI. THE MAP POSITION OF CHARCOAL, A PSEUDOALLELE OF BLACK

1978 ◽  
Vol 20 (1) ◽  
pp. 139-145 ◽  
Author(s):  
Eric Brown ◽  
Alexander Sokoloff
Keyword(s):  
Linkage Group ◽  
Tribolium Castaneum ◽  
Reciprocal Cross ◽  
Autosomal Dominant ◽  
Linkage Studies ◽  
Lethal Effects ◽  
Recessive Lethal ◽  
Reciprocal Crosses ◽  
Group Iii ◽  
Significant Difference

Charcoal, (Chr), an autosomal dominant with recessive lethal effects is located in linkage group III in Tribolium castaneum (Herbst). Its map position has been determined in respect to aureate (au), light ocular diaphragm (lod) and black (b). The distances between the various genes vary, depending on the sex of the cross. The Chr ++/+ lod au ♂ × +lod au/+lod au ♀ crosses give the following recombination values: au-lod = 22.19 ±.42%, Chr-lod = 20.03 ±.40% and Chr-au = 41.28 ±.49%. The reciprocal crosses give au-lod 28.08 ±.45%, Chr-lod = 17.67 ±.38% and Chr-au = 44.11 ±.50%. For the larger distances encompassed by the Chr-au region the recombination values in the two sexes were not significantly different. For the shorter distances the recombination values were significantly higher in the males than in the females in the au-lod region. They were not found to be significantly different in the Chr-lod region probably because of difficulty in identifying lod and non-lod beetles in the presence of Chr. Tests of allelism indicate that Chr and black b are pseudoalleles which recombine at a different rate in the two sexes. Chr +/+b ♂ × +b/+b ♀ gave 0.07% recombinants, while the reciprocal cross gave 0.014% recombinants, a significant difference. The data suggest that the order of the genes in this linkage group is Chr - b - lod - au.

An Autosomal Dominant Mutant in Tribolium castaneum with Recessive Lethal Effects

1962 ◽  
Vol 96 (888) ◽  
pp. 186-188 ◽  
Author(s):  
Eliot Krause ◽  
Doris Shideler ◽  
A. E. Bell
Keyword(s):  
Tribolium Castaneum ◽  
Autosomal Dominant ◽  
Lethal Effects ◽  
Recessive Lethal ◽  
Dominant Mutant

scholarly journals HIGH RATES OF OCCURRENCE OF SPONTANEOUS CHROMOSOME ABERRATIONS IN DROSOPHILA MELANOGASTER

Genetics ◽  
1976 ◽  
Vol 83 (2) ◽  
pp. 409-422
Author(s):  
Osamu Yamaguchi ◽  
Ricardo A Cardellino ◽  
Terumi Mukai
Keyword(s):  
Chromosome Aberrations ◽  
Gene Arrangement ◽  
Reciprocal Translocations ◽  
Lethal Effects ◽  
Recessive Lethal ◽  
The Third ◽  
Lethal Mutations ◽  
Pericentric Inversions ◽  
Break Points ◽  
Spontaneous Chromosome

ABSTRACT Spontaneous mutations were accumulated for 40 generations in 140 unrelated second chromosomes with the standard gene arrangement. These were extracted from the same population by using the marked inversion technique, and the following findings were obtained: (1) In 42 out of the 140 chromosome lines, chromosome aberrations were detected by examining the salivary gland chromosomes: 40 paracentric and 15 pericentric inversions, 2 reciprocal translocations between the second and the third chromosomes, and 6 transpositions. (2) In 63 out of the 90 originally lethal-free lines, recessive lethal mutations occurred. (3) There were only 3 lines that acquired chromosome aberrations (inversions) with no lethal effects in the homozygous condition. (4) In a comparison of these results with those of the (CH), (PQ), and (RT) chromosomes in which no chromosome aberrations occurred after accumulating mutations for 22058 chromosome·generations (Yamaguchi and Mukai 1974), it was concluded that some of these 140 chromosomes carried a kind of mutator. (5) The frequency of mutator-carrying chromosome lines was estimated to be 0.66 on the basis of the distribution of the break-points on the chromosome lines and the frequency of lines that acquired neither recessive lethal mutations nor chromosome aberrations. Thus, the average number of breaks per mutator-carrying chromosome was estimated to be about 0.19/generation. On the basis of these estimates, the nature of the mutator factor was discussed.

scholarly journals Characterization of quail Pax-6 (Pax-QNR) proteins expressed in the neuroretina.

1993 ◽  
Vol 13 (12) ◽  
pp. 7257-7266 ◽  
Author(s):  
C Carriere ◽  
S Plaza ◽  
P Martin ◽  
B Quatannens ◽  
M Bailly ◽  
...  
Keyword(s):  
Dna Binding ◽  
Autosomal Dominant ◽  
Paired Domain ◽  
Terminal Part ◽  
Dominant Mutation ◽  
Dna Binding Domains ◽  
Binding Domains ◽  
Carboxyl Terminal

After differential screening of a cDNA library constructed from quail neuroretina cells (QNR) infected with the v-myc-containing avian retrovirus MC29, we have isolated a cDNA clone, Pax-QNR, homologous to the murine Pax-6, which is mutated in the autosomal dominant mutation small eye of mice and in the disorder aniridia in humans. Here we report the characterization of the Pax-QNR proteins expressed in the avian neuroretina. From bacterially expressed Pax-QNR peptides, we obtained rabbit antisera directed against different domains of the protein: paired domain (serum 11), domain between the paired domain and homeodomain (serum 12), homeodomain (serum 13), and carboxyl-terminal part (serum 14). Sera 12, 13, and 14 were able to specifically recognize five proteins (48, 46, 43, 33, and 32 kDa) in the neuroretina. In contrast to proteins of 48, 46, and 43 kDa, proteins of 33 and 32 kDa were not recognized by the paired antiserum (serum 11). Paired-less and paired-containing proteins exhibited the same half-life (6 h) and were phosphorylated mostly on serine residues. Immunoprecipitations performed with subcellular fractions of neuroretinas showed that the paired-containing proteins were located in the nucleus, whereas the 33- and 32-kDa proteins were found essentially in the cytoplasmic compartment. However, immunofluorescence experiments performed after transient transfections showed that p46 and p33/32 were also located in vivo into the nucleus. Thus, the Pax-QNR/Pax-6 gene can produce proteins with two DNA-binding domains as well as proteins containing only the DNA-binding homeodomain.

scholarly journals Steatocystoma Multiplex of Scortum- Rare Genetic Disorder: A Case Report and Review of Literature

2016 ◽  
Vol 33 (4) ◽  
pp. 218-221
Author(s):  
Moni Mohan Saha ◽  
Sukumar Saha ◽  
Ratan Lal Datta Banik ◽  
Md Mokter Hossain
Keyword(s):  
Case Report ◽  
Microscopic Examination ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Review Of Literature ◽  
Dominant Mutation ◽  
College Hospital ◽  
Medical College ◽  
Steatocystoma Multiplex ◽  
Keratin 17

A 25 years old male attended the skin & VD outpatient department of Khulna Medical College Hospital on 16th June, 2013 with complaints of multiple asymptomatic small rounded firm, cystic nodules that are adherent to the overlying skin of scortum. The microscopic examination of the cystic nodules showed the features of steatocystoma multiplex. This disorder, although it is asymptomatic, is a cosmetic threat to the patient. Only a few cases of the patients with an autosomal dominant mutation, who had keratin 17; have been reported. We are reporting here a case of steatocystoma multiplex of scortum in a 25 years old male along with review of literature.J Bangladesh Coll Phys Surg 2015; 33(4): 218-221

scholarly journals Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK

2013 ◽  
Vol 110 (13) ◽  
pp. 5127-5132 ◽  
Author(s):  
H.-Y. Wang ◽  
C. A. Ma ◽  
Y. Zhao ◽  
X. Fan ◽  
Q. Zhou ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Antibody Deficiency ◽  
Dominant Mutation

Autosomal Dominant Mutation

2017 ◽  
Author(s):  
John H. Duffus ◽  
Michael Schwenk ◽  
Douglas M. Templeton
Keyword(s):  
Autosomal Dominant ◽  
Dominant Mutation

A novel familial autosomal dominant mutation inARID1Bcausing neurodevelopmental delays, short stature, and dysmorphic features

2016 ◽  
Vol 170 (12) ◽  
pp. 3313-3318 ◽  
Author(s):  
Joshua A. Smith ◽  
Kenton R. Holden ◽  
Michael J. Friez ◽  
Julie R. Jones ◽  
Michael J. Lyons
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Dominant Mutation ◽  
Dysmorphic Features

P187 – 2088 A case of debilitating fluctuating myotonia due to autosomal dominant mutation in SCN4A gene

2013 ◽  
Vol 17 ◽  
pp. S105
Author(s):  
B Gnidovec Strazisar ◽  
K Writzl ◽  
L Leonardis
Keyword(s):  
Autosomal Dominant ◽  
Dominant Mutation
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