Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV

Report on the survey of freshwater planarians and the water analysis in the Suyoshi River,

The Suyoshi River is a first-class river running from Suyoshi, the eastern hill side of Nagaoka city through the central aerea of the city to join the Shinano-gawa River. The creature having correlationship with the emvironmental factor such as water qualities are known as indicator organizms. Planarian is one of the indicator organisms in freshwater emvironment. This paper reports the survey about the distribution of aquatic indicator organizms, mainly planarians and the water qualities in the Suyoshi River. Cl-, Na+, K+ and Ca2+ at downstream sampling sites were higher than at upstream sites. NO3 -N was 0.19mg/L at sampling site No.4. Three spieces of freshwater planarians; Phagocata vivida, Dugesia japonica and Girardia tigrina were found in the Suyoshi River by different distribution. G. tigrina is the first foreign planarian spieces reported in Niigata Prefecture. This survey was conducted with pre-laboratorial (Prelab) students during May to October in 2016