scholarly journals Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

2011 ◽  
Vol 6 (1) ◽  
pp. 40 ◽  
Author(s):  
Serena Grossi ◽  
Stefano Regis ◽  
Roberta Biancheri ◽  
Matthew Mort ◽  
Susanna Lualdi ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Functional Characterization ◽  
Molecular Genetic Analysis ◽  
Plp1 Gene

scholarly journals Molecular genetic analysis of left–right handedness in plants

2002 ◽  
Vol 357 (1422) ◽  
pp. 799-808 ◽  
Author(s):  
Takashi Hashimoto
Keyword(s):  
Arabidopsis Thaliana ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Cortical Microtubule ◽  
Molecular Genetic Analysis ◽  
Left Handed ◽  
Helical Growth ◽  
Molecular Components ◽  
Axial Organs

Handedness in plant growth may be most familiar to us when we think of tendrils or twining plants, which generally form consistent right– or left–handed helices as they climb. The petals of several species are sometimes arranged like fan blades that twist in the same direction. Another less conspicuous example is ‘circumnutation’, the oscillating growth of axial organs, which alternates between a clockwise and an anti–clockwise direction. To unravel molecular components and cellular determinants of handedness, we screened Arabidopsis thaliana seedlings for helical growth mutants with fixed handedness. Recessive spiral1 and spiral2 mutants show right–handed helical growth in roots, hypocotyls, petioles and petals; semi–dominant lefty1 and lefty2 mutants show opposite left–handed growth in these organs. lefty mutations are epistatic to spiral mutations. Arabidopsis helical growth mutants with fixed handedness may be impaired in certain aspects of cortical microtubule functions, and characterization of the mutated genes should lead us to a better understanding of how microtubules function in left–right handedness in plants.

scholarly journals Molecular-genetic characterization of the human non-hypervariable GC-rich minisatellite UPS29 of gene CENTB5

2007 ◽  
Vol 5 (3) ◽  
pp. 35-45 ◽  
Author(s):  
Irina O Suchkova ◽  
Daria M Shubina ◽  
Ludmila K Sasina ◽  
Natalia O Slominska ◽  
Vadim B Vasilyev ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
In Silico ◽  
Genetic Characterization ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
First Time ◽  
Molecular Genetic Characterization

Human minisatellite UPS29 localized in one of CENTB5 introns was studied in silico and using molecular genetic analysis. For the first time there were revealed seven UPS29 alleles which contained 6-24 repeated units. Allele consisting of 17 repeats was prevailed (91,5 %). Frequency of other alleles varied from 0,29 % to 4,39 %. UPS29 heterozygosity was 12,3 %. Minisatellite UPS29 was classified as low polymorphic and non hypervariable.

scholarly journals Toward a molecular genetic analysis of spermatogenesis in Drosophila melanogaster: characterization of male-sterile mutants generated by single P element mutagenesis.

Genetics ◽  
1993 ◽  
Vol 135 (2) ◽  
pp. 489-505 ◽  
Author(s):  
D H Castrillon ◽  
P Gönczy ◽  
S Alexander ◽  
R Rawson ◽  
C G Eberhart ◽  
...  
Keyword(s):  
Drosophila Melanogaster ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
P Element ◽  
Male Sterile ◽  
Germline Proliferation ◽  
Complementation Groups ◽  
Mutant Phenotypes

Abstract We describe 83 recessive autosomal male-sterile mutations, generated by single P element mutagenesis in Drosophila melanogaster. Each mutation has been localized to a lettered subdivision of the polytene map. Reversion analyses, as well as complementation tests using available chromosomal deficiencies, indicate that the insertions are responsible for the mutant phenotypes. These mutations represent 63 complementation groups, 58 of which are required for spermatogenesis. Phenotypes of the spermatogenesis mutants were analyzed by light microscopy. Mutations in 12 loci affect germline proliferation, spermatocyte growth, or meiosis. Mutations in 46 other loci disrupt differentiation and maturation of spermatids into motile sperm. This collection of male-sterile mutants provides the basis for a molecular genetic analysis of spermatogenesis.

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