Abstract
Aim
Adaptation to local environments has been considered a driving force of ecological speciation. Previous phylogenetic studies at higher taxonomic levels have strongly suggested that ...herbivore diversification occurs through local adaptation to host plants. However, whether similar mechanisms contribute to within‐species diversification remains poorly understood. We reconstructed species expansion processes using the phylogenetic relationships between two
Luehdorfia
butterflies and their host plants and tested the local adaptation hypothesis during species diversification.
Location
Japanese archipelago.
Taxa
Luehdorfia japonica
and
L
.
puziloi.
Methods
We analysed mitochondrial DNA and single‐nucleotide polymorphisms to trace the expansion processes of two species in the Japanese archipelago. We analysed data collected during trans‐host plant feeding experiments to test for local host plant adaptation in
L. japonica
.
Results
Luehdorfia japonica
differentiated 17.0 million years ago (MYA) from a group of four
Luehdorfia
species in East Asia, and
L
.
puziloi
differentiated 13.3 MYA from the remaining three species. We observed several genetic groups in both species, reflecting geographical differences among populations. Some host plants had detrimental effects on the pupation rates of
L. japonica
, demonstrating the presence of genetic barriers between populations of this species.
Main Conclusions
Although these two sibling species were influenced by the geological formation of the Japanese archipelago, their present population structures differ greatly:
L
.
japonica
expanded its distribution and adapted to local host plants along at least four expansion routes independent of host plant phylogeny, and
L
.
puziloi
exhibited a more isolated population structure and was less strongly influenced by gene flow among populations. These results suggest that both isolation by distance and isolation by adaptation have been important drivers resulting in the present‐day population structure of
L
.
japonica
. Unidirectional gene flow through local adaptation to the host plant may have played a role in initial speciation.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
This study aimed to present the diagnosis and management of adnexal masses of <6 cm in full-term pregnancy at a primary-level hospital. We present two cases of adnexal torsion. Cases 1 and 2 were ...conservatively managed for masses measuring 44.4×30.5 mm and 49.4×34.3 mm in the first trimester, and the patients experienced acute-onset serious abdominal pain at 39 and 37 weeks of gestation, respectively. Emergency cesarean section and unilateral salpingo-oophorectomy were performed. Histopathology confirmed serous cystadenoma with ischemic changes in both cases. Our findings suggest that clinical information regarding adnexal masses in the first trimester and their clinical symptoms can inform management decisions in the third trimester.
Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth ...fingers and/or toes. We previously identified mutations in five genes encoding subunits of the BAF complex, in 55% of CSS patients. Here we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. SOX11 is the downstream transcriptional factor of the PAX6-BAF complex, highlighting the importance of the BAF complex and SOX11 transcriptional network in brain development.
A history of preterm birth is a risk factor for preterm birth in a future pregnancy, and there are some reports of prevention methods, such as the administration of progesterone. However, the rate of ...recurrence of preterm birth in Japan has not been clarified, and there is no data for judging whether these preventive methods are effective.
To clarify the risk of recurrence of preterm birth and preterm prelabor rupture of membranes (pPROM) in Japan.
A retrospective study was conducted using the perinatal registration database of the Japan Obstetrics and Gynecology Society for the Perinatal Center from 2014 to 2016. There were 704,418 subjects, of which 190,990 were excluded those with unknown maternal information, those under the age of 20 years, those with perinatal disease related to preterm birth, and first-time mothers.
Logistic model unavailable and multivariate analysis were performed. An analysis of the preterm birth history indicated the risk of preterm birth in the current pregnancy, and the odds ratio for preterm birth recurrence once, twice, and three times or more was 3.3, 6.6, and 7.8, respectively. As a secondary analysis, we analyzed whether the history of pPROM is a risk factor of recurrence of pPROM and found a significant association with an odds ratio of 3.4.
Having a preterm birth history increases the risk of recurrence of preterm birth, and the risk of recurrent preterm birth increases as the number of preterm births increases. Although this report is intended for high-risk pregnancies wherein the rate of preterm birth is high, as previously reported, our data indicate that in Japan, preterm birth is a risk factor of recurrent preterm birth.
Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder with specific dysmorphic features. Pathogenic genetic variants encoding cohesion complex subunits and interacting proteins (e.g., ...NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major causes of CdLS. However, there are many clinically diagnosed cases of CdLS without pathogenic variants in these genes. To identify further genetic causes of CdLS, we performed whole-exome sequencing in 57 CdLS families, systematically evaluating both single nucleotides variants (SNVs) and copy number variations (CNVs). We identified pathogenic genetic changes in 36 out of 57 (63.2 %) families, including 32 SNVs and four CNVs. Two known CdLS genes, NIPBL and SMC1A, were mutated in 23 and two cases, respectively. Among the remaining 32 individuals, four genes (ANKRD11, EP300, KMT2A, and SETD5) each harbored a pathogenic variant in a single individual. These variants are known to be involved in CdLS-like. Furthermore, pathogenic CNVs were detected in NIPBL, MED13L, and EHMT1, along with pathogenic SNVs in ZMYND11, MED13L, and PHIP. These three latter genes were involved in diseases other than CdLS and CdLS-like. Systematic clinical evaluation of all patients using a recently proposed clinical scoring system showed that ZMYND11, MED13L, and PHIP abnormality may cause CdLS or CdLS-like.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Structural variations (SVs), including translocations, inversions, deletions and duplications, are potentially associated with Mendelian diseases and contiguous gene syndromes. Determination of ...SV-related breakpoints at the nucleotide level is important to reveal the genetic causes for diseases. Whole-genome sequencing (WGS) by next-generation sequencers is expected to determine structural abnormalities more directly and efficiently than conventional methods. In this study, 14 SVs (9 balanced translocations, 1 inversion and 4 microdeletions) in 9 patients were analyzed by WGS with a shallow (5 × ) to moderate read coverage (20 × ). Among 28 breakpoints (as each SV has two breakpoints), 19 SV breakpoints had been determined previously at the nucleotide level by any other methods and 9 were uncharacterized. BreakDancer and Integrative Genomics Viewer determined 20 breakpoints (16 translocation, 2 inversion and 2 deletion breakpoints), but did not detect 8 breakpoints (2 translocation and 6 deletion breakpoints). These data indicate the efficacy of WGS for the precise determination of translocation and inversion breakpoints.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic RAC1 variants result in developmental delay and ...multiple anomalies. Here, exome sequencing identified a rare de novo RAC1 variant NM_018890.4:c.118T > C p.(Tyr40His) in a male patient. Fetal ultrasonography indicated the patient to have multiple anomalies, including persistent left superior vena cava, total anomalous pulmonary venous return, esophageal atresia, scoliosis, and right-hand polydactyly. After birth, craniofacial dysmorphism and esophagobronchial fistula were confirmed and VACTERL association was suspected. One day after birth, the patient died of respiratory failure caused by tracheal aplasia type III. The molecular mechanisms of pathogenic RAC1 variants remain largely unclear; therefore, we biochemically examined the pathophysiological significance of RAC1-p.Tyr40His by focusing on the best characterized downstream effector of RAC1, PAK1, which activates Hedgehog signaling. RAC1-p.Tyr40His interacted minimally with PAK1, and did not enable PAK1 activation. Variants in the RAC1 Switch II region consistently activate downstream signals, whereas the p.Tyr40His variant at the RAC1-PAK1 binding site and adjacent to the Switch I region may deactivate the signals. It is important to accumulate data from individuals with different RAC1 variants to gain a full understanding of their varied clinical presentations.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis, mainly occur in older patients, but have also been reported in younger ...patients. A "second peak" occurs in female patients in their thirties, particularly in ET; thus, the management of pregnancy is often discussed. We herein present the case of a 33-year-old woman with a high platelet count and multiple placental infarcts during delivery who was subsequently diagnosed with ET. Although there are no worldwide guidelines for the management of MPNs in pregnancy, the risk of thrombosis is markedly increased in these patients, and antithrombotic therapy should be considered.
We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent ...eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level.
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