Detection and analysis of null alleles of amelogenin in gender identification

2021 ◽  
pp. 101899
Author(s):  
LAI li ◽  
HUANG Xiao-li ◽  
WANG Yao-cheng ◽  
LIU Shang-long ◽  
LIN Sai-mei ◽  
...  
Keyword(s):  
Null Alleles ◽  
Gender Identification

Perceptual Evaluation of Speech Naturalness in Speakers of Varying Gender Identities

2020 ◽  
Vol 63 (7) ◽  
pp. 2054-2069
Author(s):  
Brandon Merritt ◽  
Tessa Bent
Keyword(s):  
Spontaneous Speech ◽  
Identification Accuracy ◽  
Rating Task ◽  
Gender Identification ◽  
Identification Task ◽  
Male And Female ◽  
Perceptual Evaluation ◽  
Speech Training ◽  
And Gender ◽  
Speech Naturalness

Purpose The purpose of this study was to investigate how speech naturalness relates to masculinity–femininity and gender identification (accuracy and reaction time) for cisgender male and female speakers as well as transmasculine and transfeminine speakers. Method Stimuli included spontaneous speech samples from 20 speakers who are transgender (10 transmasculine and 10 transfeminine) and 20 speakers who are cisgender (10 male and 10 female). Fifty-two listeners completed three tasks: a two-alternative forced-choice gender identification task, a speech naturalness rating task, and a masculinity/femininity rating task. Results Transfeminine and transmasculine speakers were rated as significantly less natural sounding than cisgender speakers. Speakers rated as less natural took longer to identify and were identified less accurately in the gender identification task; furthermore, they were rated as less prototypically masculine/feminine. Conclusions Perceptual speech naturalness for both transfeminine and transmasculine speakers is strongly associated with gender cues in spontaneous speech. Training to align a speaker's voice with their gender identity may concurrently improve perceptual speech naturalness. Supplemental Material https://doi.org/10.23641/asha.12543158

scholarly journals Identification and Characterization of Genes That Interact With lin-12 in Caenorhabditis elegans

Genetics ◽  
1997 ◽  
Vol 147 (4) ◽  
pp. 1675-1695 ◽  
Author(s):  
Frans E Tax ◽  
James H Thomas ◽  
Edwin L Ferguson ◽  
H Robert Horvitzt
Keyword(s):  
Cell Fate ◽  
Low Frequency ◽  
Signal Transduction Pathway ◽  
Temperature Shift ◽  
Egg Laying ◽  
Null Alleles ◽  
Temperature Sensitive ◽  
Loss Of Function ◽  
Gain Of Function ◽  
Suppressor Mutations

Abstract We identified and characterized 14 extragenic mutations that suppressed the dominant egg-laying defect of certain lin-12 gain-of-function mutations. These suppressors defined seven genes: sup-l7, lag-2, sel-4, sel-5, sel-6, sel-7 and sel-8. Mutations in six of the genes are recessive suppressors, whereas the two mutations that define the seventh gene, lag-2, are semi-dominant suppressors. These suppressor mutations were able to suppress other lin-12 gain-of-function mutations. The suppressor mutations arose at a very low frequency per gene, 10-50 times below the typical loss-of-function mutation frequency. The suppressor mutations in sup1 7 and lag-2 were shown to be rare non-null alleles, and we present evidence that null mutations in these two genes cause lethality. Temperature-shift studies for two suppressor genes, sup1 7and lag-2, suggest that both genes act at approximately the same time as lin-12in specifying a cell fate. Suppressor alleles of six of these genes enhanced a temperature-sensitive loss-of-function allele of glp-1, a gene related to lin-12 in structure and function. Our analysis of these suppressors suggests that the majority of these genes are part of a shared lin-12/glp-1 signal transduction pathway, or act to regulate the expression or stability of lin-12 and glp-1.

scholarly journals Molecular Characterization of Pax62Neu Through Pax610Neu: An Extension of the Pax6 Allelic Series and the Identification of Two Possible Hypomorph Alleles in the Mouse Mus musculus

Genetics ◽  
2001 ◽  
Vol 159 (4) ◽  
pp. 1689-1700
Author(s):  
Jack Favor ◽  
Heiko Peters ◽  
Thomas Hermann ◽  
Wolfgang Schmahl ◽  
Bimal Chatterjee ◽  
...  
Keyword(s):  
Amino Acid ◽  
Molecular Characterization ◽  
Amino Acid Substitution ◽  
Gene Dosage ◽  
Three Dimensional ◽  
Null Alleles ◽  
Target Sequence ◽  
Allelic Series ◽  
Phenotypic Analysis ◽  
Major Interest

Abstract Phenotype-based mutagenesis experiments will increase the mouse mutant resource, generating mutations at previously unmarked loci as well as extending the allelic series at known loci. Mapping, molecular characterization, and phenotypic analysis of nine independent Pax6 mutations of the mouse recovered in mutagenesis experiments is presented. Seven mutations result in premature termination of translation and all express phenotypes characteristic of null alleles, suggesting that Pax6 function requires all domains to be intact. Of major interest is the identification of two possible hypomorph mutations: Heterozygotes express less severe phenotypes and homozygotes develop rudimentary eyes and nasal processes and survive up to 36 hr after birth. Pax64Neu results in an amino acid substitution within the third helix of the homeodomain. Three-dimensional modeling indicates that the amino acid substitution interrupts the homeodomain recognition α-helix, which is critical for DNA binding. Whereas cooperative dimer binding of the mutant homeodomain to a paired-class DNA target sequence was eliminated, weak monomer binding was observed. Thus, a residual function of the mutated homeodomain may explain the hypomorphic nature of the Pax64Neu allele. Pax67Neu is a base pair substitution in the Kozak sequence and results in a reduced level of Pax6 translation product. The Pax64Neu and Pax67Neu alleles may be very useful for gene-dosage studies.

scholarly journals Identification and Characterization of the Genes Encoding the Core Histones and Histone Variants of Neurospora crassa

Genetics ◽  
2002 ◽  
Vol 160 (3) ◽  
pp. 961-973 ◽  
Author(s):  
Shan M Hays ◽  
Johanna Swanson ◽  
Eric U Selker
Keyword(s):  
Neurospora Crassa ◽  
Histone Variants ◽  
Null Alleles ◽  
Histone Genes ◽  
Histone H4 ◽  
Coding Regions ◽  
The Core ◽  
Genomic Arrangement ◽  
Genes Encoding ◽  
Core Histones

Abstract We have identified and characterized the complete complement of genes encoding the core histones of Neurospora crassa. In addition to the previously identified pair of genes that encode histones H3 and H4 (hH3 and hH4-1), we identified a second histone H4 gene (hH4-2), a divergently transcribed pair of genes that encode H2A and H2B (hH2A and hH2B), a homolog of the F/Z family of H2A variants (hH2Az), a homolog of the H3 variant CSE4 from Saccharomyces cerevisiae (hH3v), and a highly diverged H4 variant (hH4v) not described in other species. The hH4-1 and hH4-2 genes, which are 96% identical in their coding regions and encode identical proteins, were inactivated independently. Strains with inactivating mutations in either gene were phenotypically wild type, in terms of growth rates and fertility, but the double mutants were inviable. As expected, we were unable to isolate null alleles of hH2A, hH2B, or hH3. The genomic arrangement of the histone and histone variant genes was determined. hH2Az and the hH3-hH4-1 gene pair are on LG IIR, with hH2Az centromere-proximal to hH3-hH4-1 and hH3 centromere-proximal to hH4-1. hH3v and hH4-2 are on LG IIIR with hH3v centromere-proximal to hH4-2. hH4v is on LG IVR and the hH2A-hH2B pair is located immediately right of the LG VII centromere, with hH2A centromere-proximal to hH2B. Except for the centromere-distal gene in the pairs, all of the histone genes are transcribed toward the centromere. Phylogenetic analysis of the N. crassa histone genes places them in the Euascomycota lineage. In contrast to the general case in eukaryotes, histone genes in euascomycetes are few in number and contain introns. This may be a reflection of the evolution of the RIP (repeat-induced point mutation) and MIP (methylation induced premeiotically) processes that detect sizable duplications and silence associated genes.

scholarly journals A Nucleolar Protein That Affects Mating Efficiency in Saccharomyces cerevisiae by Altering the Morphological Response to Pheromone

Genetics ◽  
1998 ◽  
Vol 149 (2) ◽  
pp. 795-805
Author(s):  
Jinah Kim ◽  
Jeanne P Hirsch
Keyword(s):  
Growth Regulation ◽  
Subcellular Location ◽  
Null Alleles ◽  
Temperature Sensitive ◽  
Gene Products ◽  
Morphological Response ◽  
Mating Efficiency ◽  
Yeast Genes ◽  
Transcriptional Induction ◽  
In Cells

Abstract SSF1 and SSF2 are redundant essential yeast genes that, when overexpressed, increase the mating efficiency of cells containing a defective Ste4p Gβ subunit. To identify the precise function of these genes in mating, different responses to pheromone were assayed in cells that either lacked or overexpressed SSF gene products. Cells containing null alleles of both SSF1 and SSF2 displayed the normal transcriptional induction response to pheromone but were unable to form mating projections. Overexpression of SSF1 conferred the ability to form mating projections on cells containing a temperature-sensitive STE4 allele, but had only a small effect on transcriptional induction. SSF1 overexpression preferentially increased the mating efficiency of a strain containing a null allele of SPA2, a gene that functions specifically in cell morphology. To investigate whether Ssf1p plays a direct physical role in mating projection formation, its subcellular location was determined. An Ssf1p-GFP fusion was found to localize to the nucleolus, implying that the role of SSF gene products in projection formation is indirect. The region of Ssf1p-GFP localization in cells undergoing projection formation was larger and more diffuse, and was often present in a specific orientation with respect to the projection. Although the function of Ssf1p appears to originate in the nucleus, it is likely that it ultimately acts on one or more of the proteins that is directly involved in the morphological response to pheromone. Because many of the proteins required for projection formation during mating are also required for bud formation during vegetative growth, regulation of the activity or amount of one or more of these proteins by Ssf1p could explain its role in both mating and dividing cells.

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