Common Genetic Influences on Age at Pubertal Voice Change and BMI in Male Twins.

The present study aimed to explore secular trends in age at voice change (AVC), estimate heritability of AVC and investigate to what extent common genes influence the association between AVC and body mass index (BMI) in South Korean males. The sample of 955 male twins consisted of 241 pairs and 118 co-twin missing monozygotic (MZ) twins, 82 pairs and 50 co-twin missing dizygotic (DZ) twins and 141 male members of opposite-sex DZ twins who participated in telephone surveys in the South Korean Twin Registry. AVC was asked of twins during the surveys. The mean (SD) age of the sample was 18.92 (2.42) years (range: 16.00-29.25 years). The birth years of the twins were divided into two groups (1988-1993, 1994-2001). Kaplan-Meyer survival analyses were conducted to compute the mean age of AVC in the total sample as well as to test mean differences between the two birth cohorts. Maximum likelihood twin correlations and univariate and bivariate model-fitting analyses were performed. The mean AVC in the total sample was 14.19 (95% CI [14.09, 14.29]) years. The mean AVC significantly declined from 14.38 to 14.02 years from 1988 to 2001, confirming downward trends in AVC in recent years. Heritability for AVC was .59 (95% CI [.50, .67]), which was within the range reported in most Western twin studies. Although the phenotypic correlation between AVC and BMI was modest (r = -.14; 95% CI [-.07, -.21]), it was entirely mediated by common genes, similar to what has been found in females in prior twin studies. In conclusion, the present twin study underscores the importance of genetic influences on pubertal timing and its association with BMI in South Korean males.

A Polygenic Risk Score Suggests Shared Genetic Architecture of Voice Break With Early Markers of Pubertal Onset in Boys.

CONTEXT: Voice break, as a landmark of advanced male puberty in genome-wide association studies (GWAS), has revealed that pubertal timing is a highly polygenic trait. Although voice break is easily recorded in large cohorts, it holds quite low precision as a marker of puberty. In contrast, gonadarche and pubarche are early and clinically well-defined measures of puberty onset. OBJECTIVE: To determine whether a polygenic risk score (PRS) of alleles that confer risk for voice break associates with age at gonadarche (AAG) and age at pubarche (AAP) in Chilean boys. EXPERIMENTAL DESIGN: Longitudinal study. SUBJECTS AND METHODS: 401 boys from the Growth and Obesity Chilean Cohort Study (n = 1194; 49.2% boys). MAIN OUTCOME MEASURES: Biannual clinical pubertal staging including orchidometry. AAG and AAP were estimated by censoring methods. Genotyping was performed using the Multi-Ethnic Global Array (Illumina). Using GWAS summary statistics from the UK-Biobank, 29 significant and independent single nucleotide polymorphisms associated with age at voice break were extracted. Individual PRS were computed as the sum of risk alleles weighted by the effect size. RESULTS: The PRS was associated with AAG (ß=0.01, P = 0.04) and AAP (ß=0.185, P = 0.0004). In addition, boys within the 20% highest PRS experienced gonadarche and pubarche 0.55 and 0.67 years later than those in the lowest 20%, respectively (P = 0.013 and P = 0.007). CONCLUSIONS: Genetic variants identified in large GWAS on age at VB significantly associate with age at testicular growth and pubic hair development, suggesting that these events share a genetic architecture across ethnically distinct populations.

Speech tempo and fundamental frequency patterns: a case study of male monozygotic twins and an age- and sex-matched sibling.

This case study describes an investigation into the speaking characteristics of a set of male monozygotic (MZ) twins (T1 and T2) and an age- and sex-matched sibling (S). Measures of speech tempo and fundamental frequency (F0) were analysed in the speech samples of a reading passage. Results showed significant between-sibling differences for sentence durations and F0 parameters; however, Euclidean distance (ED) measures revealed the smallest distances between the F0 parameters of the MZ twins. The smallest ED values were also observed between T1 and T2 for word durations, pause durations, all-voiced sample durations, and all the all-voiced sample F0 parameters. Greater similarities were observed across all three siblings for the speech tempo and dynamic F0 parameters.

Exploring genetic and environmental effects in dysphonia: a twin study.

PURPOSE: To explore the existence of genetic effects as well as the interaction between potential genetic effects and a voice-demanding occupation on dysphonia. METHOD: One thousand seven hundred and twenty-eight Finnish twins (555 male; 1,173 female) born between 1961 and 1989 completed a questionnaire concerning vocal symptoms and occupation. The zygosity determination resulted in 125 monozygotic and 108 dizygotic full twin pairs. A composite variable called dysphonia was formed by summing 6 vocal symptoms based on the results of a factor analysis. Twin model fitting was used to explore the contribution of genetic and environmental effects on the dysphonia variable. RESULTS: Individual differences in dysphonia were explained by genetic effects (35%) and nonshared environmental effects (65%). Shared environmental effects were estimated at 0%. Also, the authors found that for the participants who worked in voice-demanding occupations, the causes of dysphonia were more environmental, whereas the etiology of the symptoms was more strongly affected by genes in the participants with less voice-demanding occupations. However, this gene-environment interaction was not statistically significant. CONCLUSION: Both genetic and environmental factors have an impact on the etiology of voice problems. Environmental factors, either independently or interacting with genetic factors, seem to play the key role, especially if the person has a voice-demanding occupation.

Voice onset time production in older and younger female monozygotic twins.

A comparison of voice onset time (VOT) production in younger and older female monozygotic twins revealed greater similarity for the younger than the older female twin pairs. Based on findings from this study and a review of previous twin literature, it is hypothesized that 'source' characteristics of speech (voice properties) are under more constraints by genetics, while 'filter' characteristics of speech (VOT, formant frequencies) are freer to diverge due to environmental factors such as different linguistic environments. Since the older twins separated to two distinct linguistic areas of the United States at the age of 25 years, while the 2 younger twins continue to share domicile at 21 years, the findings of this study appear to support this preliminary hypothesis.

Cultures, genes, and neurons in the development of song and singing in brown-headed cowbirds (Molothrus ater).

In brown-headed cowbirds, Molothrus ater, as in many songbird species, vocalizations are fundamental to reproduction. In our studies, experiments utilizing different social housing regimes and geographic comparisons have indicated the social learning of males' vocalizations and associated abilities to use vocalizations effectively during the breeding season. Here, we describe studies indicating roles of cultural and genetic background, and of social influences from females, on male vocal development. These influences can interact with neural regions, including song learning and song control nuclei, but also visual-processing nuclei, in the development of signaling. We argue that a developmental systems approach to the study of vocal behavior provides a structure to organize these different influences and how they may interact with one another over development. A systems approach requires that researchers study the social context in which signals and signalers develop - both the ontogenetic arena in which young animals learn their signals from older animals, and the functional arena in which young and older animals socially interact with one another.

Voice similarity in identical twins.

If people are asked to discriminate visually the two individuals of a monozygotic twin (MT), they mostly get into trouble. Does this problem also exist when listening to twin voices? Twenty female and 10 male MT voices were randomly assembled with one "strange" voice to get voice trios. The listeners (10 female students in Speech and Language Pathology) were asked to label the twins (voices 1-2, 1-3 or 2-3) in two conditions: two standard sentences read aloud and a 2.5-second midsection of a sustained /a/. The proportion correctly labelled twins was for female voices 82% and 63% and for male voices 74% and 52% for the sentences and the sustained /a/ respectively, both being significantly greater than chance (33%). The acoustic analysis revealed a high intra-twin correlation for the speaking fundamental frequency (SFF) of the sentences and the fundamental frequency (F0) of the sustained /a/. So the voice pitch could have been a useful characteristic in the perceptual identification of the twins. We conclude that there is a greater perceptual resemblance between the voices of identical twins than between voices without genetic relationship. The identification however is not perfect. The voice pitch possibly contributes to the correct twin identifications.

Genetics of the voice.

Substantial advances have led to the evolution of voice as the newest subspecialty of otolaryngology. Nevertheless, little is known about the genetics of voice. Genetic research is needed to further elucidate the relationship between vocal tract structure (including ultrastructure) and function, mechanisms of voice dysfunction, and transmission of normal and abnormal voice characteristics.

Morphologic ultrastructure of anchoring fibers in normal vocal fold basement membrane zone.

Anchoring fibers are collagenous structures that help secure basal cells to the superficial layer of the lamina propria (SLLP). Transmission electron microscopy was used to study the morphology and organization of these anchoring fibers at the human vocal fold basement membrane zone. This study shows that anchoring fibers loop from the lamina densa through the lamina propria and reattach to the lamina densa. Collagen fibers from the lamina propria appear to pass through the loops created by the anchoring fibers. This relationship partially explains how the epidermis secures itself to the SLLP during vibration resulting from phonation. The population density of anchoring fibers and genetics is discussed.