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Abstract: The Prep1 homeodomain transcription factor is essential for embryonic development. 25% of hypomorphic Prep1i/i embryos, expressing the gene at 2% of the normal levels, survive pregnancy and live a normal-length life. Later in life, however, these mice develop spontaneous pre-tumoral lesions or solid tumors (lymphomas and carcinomas). In addition, transplantation of E14.5 fetal liver (FL) Prep1i/i cells into lethally irradiated mice induces lymphomas. In agreement with the above data, haploinsufficiency of a different Prep1-deficient (null) allele accelerates EμMyc lymphoma growth. Therefore Prep1 has a tumor suppressor function in mice. Immunohistochemistry on tissue micrroarrays (TMA) generated from three distinct human cohorts comprising a total of some 1000 human tumors revealed that 70% of the tumors express no or extremely low levels of Prep1, unlike normal tissues. Our data in mice are thus potentially relevant to human cancer. [Copyright &y& Elsevier]

BACKGROUND: Despite recent interest in relationships between maternal gesture and speech and communicative development in typically developing (TD) children, little work has examined either speech or gesture in mothers of children with Down's syndrome (DS). AIMS: To compare aspects of speech and gesture production by mothers of children with DS with that of mothers of TD children. METHODS & PROCEDURES: Participants were five mothers of children with DS (mean chronological age (CA) = 47.6 months; mean mental age (MA) = 22.4 months) and five mothers of TD children. To equate for expressive language ability, children in the TD and DS groups were individually matched on the basis of: (1) gender; (2) correspondence between the TD child's chronological age and the DS child's language age; and (3) observed expressive vocabulary size. Each mother-child dyad was videotaped for approximately 30 min during free play. Data analyses focused on: (1) the number and types (speech only, gesture only, mixed) of maternal utterances; (2) the gesture types (deictic, iconic, conventional, emphatic); and (3) for mixed utterances, the structure and the temporal patterning of spoken and gestured components. OUTCOMES & RESULTS: Relative to mothers of TD children, mothers of children with DS produced significantly fewer utterances overall, but the distribution of utterance types did not differ between the two groups. Relative to mothers of TD children, mothers of children with DS used proportionately more deictic gestures and made more frequent use of showing. Mothers of TD children produced more pointing gestures. Finally, mothers of children with DS produced a significantly higher proportion of utterances consisting of a single gesture and a single verbal utterance; in contrast to mothers of TD children, more complex structures (one gesture with multiple verbal utterances, one verbal utterance with multiple gestures) were never observed. Within the category of utterances consisting of a gesture and a single verbal utterance, mothers of children with DS tended to produce gestures that were held throughout the complete verbal utterance, while the gestures of mothers of TD children tended to co-occur with only a portion of the utterance. CONCLUSIONS: The findings suggest that mothers of children with DS adjust their communication to the developmental status of their child. Results are discussed in terms of the role of gesture in maternal communication and in the regulation of mother-child interaction. [ABSTRACT FROM AUTHOR]

BACKGROUND: Previous research has emphasized the importance of gesture in early communicative development. These studies have reported that gestures are used frequently during the first two years of life and may play a transitional role in the language acquisition process. Although there are now numerous descriptions of the relationship between gesture and the developing language system in typically-developing (TD) children, relatively little is known about the nature and early development of the gesture-language system in children with developmental disorders involving specific profiles of language delay and/or impairment. PRIMARY OBJECTIVE: The aim of this study is to compare early word and gesture use in children with DS and in typically-developing children to investigate potential differences in the relationship between gestural and verbal communication in early language development. METHODS AND PROCEDURES: Ten children from upper-middle class families participated in the study. The five children with DS (3 boys and 2 girls) had an average chronological age of 47.6 months, an average mental age of 22.4 months, and an average language age of 18 months. Each child with DS was matched to a typically developing child on the basis of gender, language age, and observed expressive vocabulary size. Children were videotaped for 30 minutes as they interacted spontaneously with their mothers. All communicative and intelligible gestures and words produced by the children were transcribed from the videotapes. Data analyses focused on: a) overall production of gestures and words (i.e., gesture and word tokens); b) the size of children's gestural and verbal repertoires (i.e., gesture and word types); and c) production and informational content of gesture-word combinations. MAIN OUTCOMES AND RESULTS: Although children with DS had significantly smaller gestural repertoires than their language age-matched peers, there was no reliable difference between the two groups in the overall use of gesture. In addition, with DS produced two-element combinations (primarily gesture-word combinations) and did so at a rate comparable to that observed among their TD counterparts. However, no two-word combinations were observed among children with DS, and there were also group differences in the information contained in children's gesture-word combinations. CONCLUSIONS: Taken together, these findings suggest that in addition to the well-documented global delays in early communicative development, children with DS may exhibit additional pockets of delay, specifically in making the transition from one- to two-word speech. Results are further discussed in terms of their implications for understanding the organization of the developing gesture-language system and for the assessment of gesture in young children with communicative delays and disorders. [ABSTRACT FROM AUTHOR]

Summary The goat CSN1S2 locus is characterized by the presence of three alleles, A, B and C, all associated with about 2.5 g/l of protein per allele. The SDS-PAGE analysis of 441 individual milk samples obtained from goats belonging to a population reared in Southern Italy showed that the milk produced by three goats did not apparently contain alpha s[sub 2]-casein, whereas milk produced by 37 goats showed a less intense electrophoretic band of this casein fraction (about 50%). These results can be explained by hypothesizing the presence of another allele at this locus, CSN1S2 degrees, associated with a `null' content of alpha s[sub 2]-casein. Southern blot, PCR and PCR-RFLP analyses of the DNA region containing the CSN1S2 gene of individuals producing milk with and without alpha s[sub 2]-casein did not show differences between the two groups. As a consequence, goats producing milk without alpha s[sub 2]-casein carry an apparently intact gene. The first results obtained by sequencing part of the CSN1S2 degrees allele revealed a G arrow right A transition at nucleotide 80 of the 11th exon which creates a stop codon and could be responsible for the absence of the alpha s[sub 2]-casein in goat milk. This mutation eliminates a NcoI restriction site. A test based on this polymorphism has been established in order to identify carriers [ABSTRACT FROM AUTHOR]

Examines a PstI polymorphism at the goat CSN1S2 gene. PstI restriction pattern of the amplified fragment; Polymerase chain reaction conditions and restriction fragment length polymorphism conditions; Allele frequencies; Chromosomal location.

The present study reports a case of dizygotic twins, one boy with Williams syndrome (WS) and one typically developing girl, and compares their neuropsychological profiles. The goal of the present authors was to verify whether the child with WS displayed a cognitive profile which is unique to the syndrome. Several tests designed to assess visuo-perceptual, visuo-motor, linguistic and memory abilities were administered to both children when they were 10.9 years old. Compared to his sister, the boy with WS displayed a homogeneous developmental delay in both non-verbal and verbal abilities. He achieved a level of performance similar to his sister only in facial recognition, phonological word fluency and memory for phonologically similar words. Furthermore, despite the overall delayed performance of the boy, both the twins displayed a cognitive profile characterized by strength in lexical comprehension and relative weakness in visuo-motor abilities. [ABSTRACT FROM AUTHOR]

Two novel alleles at the goat CSN1S2 locus have been identified: CSN1S2F and CSN1S2D. Sequence analyses revealed that the CSN1S2F allele is characterized by a G → A transition at the 13th nucleotide in exon 3 changing the seventh amino acid of the mature protein from Val to Ile. The CSN1S2D allele, apparently associated with a decreased synthesis of αs2-casein, is characterized by a 106-bp deletion, involving the last 11 bp of the exon 11 and the first 95 bp of the following intron. Methods (PCR–RFLP and PCR) for identification of carriers of these alleles have been developed. [ABSTRACT FROM AUTHOR]