Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosol... more Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene,NAA10,encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex, also including the accessory protein, NAA15. The full spectrum of human genetic variation in this pathway is currently unknown. Here we reveal the genetic landscape of variation inNAA10andNAA15in humans. Through a genotype-first approach, one clinician interviewed the parents of 56 individuals withNAA10variants and 19 individuals withNAA15variants, which were added to all known cases (N=106 forNAA10and N=66 forNAA15). Although there is clinical overlap between the two syndromes, functional assessment demonstrates that the overall level of functioning for the probands withNAA10variants is significantly lower than the probands withNAA15variants. The phenotypic spectrum includes variable levels of intellectual disability, de...
ABSTRACTIn the period between sole use of single words and majority use of multiword utterances, ... more ABSTRACTIn the period between sole use of single words and majority use of multiword utterances, children draw from their existing productive capability and conversational input to facilitate the eventual outcome of majority use of multiword utterances. During this period, children use word combinations that are not yet mature multiword utterances, termed ‘successive single-word utterances’ (SSWUs). The language development of five children, observed in play with their mothers, was studied longitudinally across the transitional period (age 1 ; 3 to 2 ; 0). Results demonstrate a common developmental trajectory from single words to SSWUs, formed with the support of conversation, to more independent SSWUs, and finally to majority use of multiword utterances. The children varied in the extent to which they produced SSWUs and whether they first produced across-turn versus within-turn SSWUs. Possible reasons for variability and why SSWU production may be important to the development of mu...
Do children’s single words related to motion and change also encode aspects of environmental even... more Do children’s single words related to motion and change also encode aspects of environmental events highlighted by Talmy’s motion event analysis? If so, these meanings may predict children’s early verb meanings. Analyzing the kinds of meanings expressed in single “dynamic event words” through motion event semantics yields links between early true verbs in sentences and the semantics encoded in these single words. Dynamic event words (e.g., more, allgone, out, down) reflect the sense of temporal and spatial reversibility established in the late sensorimotor period. We propose that these dynamic meanings provide the semantic foundation for the most common verbs included in early sentences, and thus a bootstrap to full development of the verb repertoire. In this study, we followed the spoken language development (from single words to sentences) of five children. We identified dynamic event words as encoding dynamic change in the following dimensions: (1) spatial direction in relation t...
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosol... more Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene,NAA10,encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex, also including the accessory protein, NAA15. The full spectrum of human genetic variation in this pathway is currently unknown. Here we reveal the genetic landscape of variation inNAA10andNAA15in humans. Through a genotype-first approach, one clinician interviewed the parents of 56 individuals withNAA10variants and 19 individuals withNAA15variants, which were added to all known cases (N=106 forNAA10and N=66 forNAA15). Although there is clinical overlap between the two syndromes, functional assessment demonstrates that the overall level of functioning for the probands withNAA10variants is significantly lower than the probands withNAA15variants. The phenotypic spectrum includes variable levels of intellectual disability, de...
ABSTRACTIn the period between sole use of single words and majority use of multiword utterances, ... more ABSTRACTIn the period between sole use of single words and majority use of multiword utterances, children draw from their existing productive capability and conversational input to facilitate the eventual outcome of majority use of multiword utterances. During this period, children use word combinations that are not yet mature multiword utterances, termed ‘successive single-word utterances’ (SSWUs). The language development of five children, observed in play with their mothers, was studied longitudinally across the transitional period (age 1 ; 3 to 2 ; 0). Results demonstrate a common developmental trajectory from single words to SSWUs, formed with the support of conversation, to more independent SSWUs, and finally to majority use of multiword utterances. The children varied in the extent to which they produced SSWUs and whether they first produced across-turn versus within-turn SSWUs. Possible reasons for variability and why SSWU production may be important to the development of mu...
Do children’s single words related to motion and change also encode aspects of environmental even... more Do children’s single words related to motion and change also encode aspects of environmental events highlighted by Talmy’s motion event analysis? If so, these meanings may predict children’s early verb meanings. Analyzing the kinds of meanings expressed in single “dynamic event words” through motion event semantics yields links between early true verbs in sentences and the semantics encoded in these single words. Dynamic event words (e.g., more, allgone, out, down) reflect the sense of temporal and spatial reversibility established in the late sensorimotor period. We propose that these dynamic meanings provide the semantic foundation for the most common verbs included in early sentences, and thus a bootstrap to full development of the verb repertoire. In this study, we followed the spoken language development (from single words to sentences) of five children. We identified dynamic event words as encoding dynamic change in the following dimensions: (1) spatial direction in relation t...
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