Leukotriene B4 (LTB4) omega-hydroxylase catalyzes the conversion of LTB4 into a biologically less active product, 20-hydroxy-LTB4. In a preceding paper (Kikuta et al., 1993), we showed human polymorphonuclear leukocyte (PMN) LTB4 omega-hydroxylase to be a novel form of cytochrome P450, designated CYP4F3, on the basis of its cDNA cloning and expression in yeast cells. Here, we have isolated the gene encoding CYP4F3 and determined its genomic organization and chromosomal localization. The CYP4F3 gene contained 13 exons and spanned approximately 22.2 kb. The cDNA of CYP4F3 contained 5050 nucleotides excluding the poly(A) tail. The translation initiation codon (ATG) was present in exon II. Primer extension and S1 mapping analyses indicated that the transcription initiation site is 49 nucleotides upstream from the 3' end of exon I, and no other initiation sites were detected. A TATA-box-like sequence (TACAT) and 120-b GC-rich sequence were observed just before transcription initiation site. Several putative regulating elements recognized by the GATA family, MZF-1, CACCC binding protein, and C/EBP, were identified in its 5' flanking region. Genomic DNA screening for CYP4F3 and Southern blot analysis suggested the existence of other CYP4F genes in addition to CYP4F3 and CYP4F2 in the human genome. Fluorescence in situ hybridization demonstrated that the CYP4F3 gene is located at 19p13.2.

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Responses to smiling and nonsmiling expressions are influenced by sex of both viewer and expresser. This study investigated the stage of neural processing at which the sexes of viewer and expresser modulate the recognition of smiling and nonsmiling expressions by measuring event-related potentials. The results showed that late positive component was larger to neutral expression of own-sex faces than to that of opposite-sex faces. These results indicate that neural correlates of facial expression recognition are influenced by the sexes of both viewer and expresser of facial expression at the stage of cognitive evaluation.

Objective: Eyes absent 4 (EYA4) is the causative gene of autosomal dominant non-syndromic hereditary hearing loss, DFNA10. We aimed to identify a copy number variation of EYA4 in a non-syndromic sensory neural hearing loss pedigree. Family and Clinical Evaluation: A Japanese family showing late-onset and progressive hearing loss was evaluated. A pattern of autosomal dominant inheritance of hearing loss was recognized in the pedigree. No cardiac disease was observed in any of the individuals. Methods: Targeted exon sequencing was performed using massively parallel DNA sequencing (MPS) analysis. Scanning of the array comparative genomic hybridization (aCGH) was completed and the copy number variation (CNV) data from the aCGH analysis was confirmed by matching all CNV calls with MPS analysis. Breakpoint detection was performed by whole-genome sequencing and direct sequencing. Sequencing results were examined, and co-segregation analysis of hearing loss was completed. Results: We identified a novel hemizygous indel that showed CNV in the EYA4 gene from the position 133,457,057 to 133,469,892 on chromosome 6 (build GRCh38/hg38) predicted as p.(Val124_Pro323del), and that was segregated with post-lingual and progressive autosomal dominant sensorineural hearing loss by aCGH analysis. Conclusion: Based on the theory of genotype-phenotype correlation with EYA4 mutations in terms of hearing loss and comorbid dilated cardiomyopathy, the region of amino acids 124 to 343 is hypothesized not to be the pathogenic region causing dilated cardiomyopathy. Additionally, the theory of genotype-phenotype correlation about the prevalence of dilated cardiomyopathy is thought to be rejected because of no correlation of deleted amino acid region with the prevalence of dilated cardiomyopathy. These results will help expand the research on both the coordination of cochlear transcriptional regulation and normal cardiac gene regulation via EYA4 transcripts and provide information on the genotype-phenotype correlations of DFNA10 hearing loss.

Motor activities of interacting agents get temporally coordinated to form synchronized actions. Such activity synchrony is observed in several mammalian species and is supposed to play vital roles in human social interactions. Therefore, it has long been proposed that the activity patterns of mother and infant get temporally synchronized. However, few studies to date have empirically investigated the developmental course of such synchrony. The present study simultaneously measured motor activities of mother-infant pairs for about 3.5 consecutive days by actigraph, and investigated the developmental course of mother-infant synchrony. The multiple regression analysis revealed an increase of mother-infant synchrony from 4 to 18 months after birth, giving support to the notion that activity patterns of mother and infant mutually entrain each other through the course of development.