Intresset för lövplantor hos Södra skogsägarnas medlemmar i Oskarströms verksamhetsområde

Lövskogarna var för 200 – 300 år sedan överexploaterade i södra Sverige och förekommer idag främst i mindre och fragmenterade områden. Efterfrågan på barrsågtimmer från industrierna steg och på de tidigare lövbevuxna markerna planterades istället gran och tall. Detta resulterade i att lövträden aktivt började rensas bort med herbicider som t.ex. Hormoslyr. Idag har lövträden en större betydelse i skogarna och framtiden ser mer positiv ut tack vare t.ex. certifieringar, ny teknik, biologisk mångfald, rekreation och ur en klimatsynpunkt. Den positiva trenden syns hos markägare då fler värnar om lövträden och i olika utsträckning väljer att satsa på dem. En tydlig indikator är den ökade försäljningen och en högre efterfrågan av lövplantor, som bl.a. setts hos Södra skogsplantor. Syftet med studien är att undersöka de främsta faktorerna som styr intresset hos markägare till att plantera lövträd, och hur skogsinspektorerna upplever intresse för lövträd bland markägarna. Undersökningen har utförts genom litteraturstudier, en enkätundersökning riktad till markägare samt intervjuer med markägare och skogsinspektorer. Enkätundersökningen och intervjuerna riktade sig till Södra skogsägarnas medlemmar som beställt lövplantor från Södra skogsplantor. Skogsinspektorerna som intervjuades var verksamma vid Södras verksamhetsområde i Oskarström. I litteraturstudien söktes relevant information om lövträd och lövplantor huvudsakligen i databasen Primo. Enligt resultatet från enkäten och intervjuerna var de främsta anledningarna till att markägarna valt att plantera lövplantor natur- och landskapsvård samt klimatpåverkan. Anledningen till att det är viktigt för markägarna med lövträd handlar bland annat om en förhoppning att lövinblandningen skapar en skog som är mer beständig mot storm, torka, rotröta etc. Andra faktorer som visade sig ha stor betydelse var ståndortsanpassning, miljöhänsyn, produktionsmål, rekreation och nyfikenhet. I de flesta fall planterades det triviallöv följt av en något lägre mängd ädellöv. Trädslagsvalet berodde på vilka mål markägarna hade och hur de ställde sig till ädellövslagen där vissa var för och andra emot. Stödet som ges från skogsinspektorerna i frågan om anläggning av lövskog upplevdes enligt markägarna olika. I vissa fall var bara granen intressant och i andra fall upplevdes ett fullt stöd och stort intresse för lövplantor. Det man kan konstatera är att markägarna är mer benägna att tänka på miljön och hur de kan förhindra framtida skador till följd av klimatförändringar. Valet att plantera lövträd är främst beroende av markägarens eget intresse och delvis en generationsfråga där den yngre generationen generellt är mer positiv. De hinder som finns för en ökad lövandel är att det är viltbegärligt, kostsamt att anlägga och arbetsintensivt, vilket troligen gör att många avstår. En annan viktig del är att det finns en stor kunskapslucka gällande dels hur lövskogen ska skötas, och dess egenskaper och möjligheter inom industrin. Spridningen av den kunskap som finns går också långsamt. Detta gör att valet hamnar på att plantera gran i stället för lövträd. Skogsägare ansåg dock att det är viktigt att se till hela perspektivet i sitt skogsbruk och därför sprida sina risker för en hållbar framtid, men framför allt att öka kunskapen om lövträd och sprida den till andra.200 – 300 years ago the broad-leaved forests were overexploited in southern Sweden and today they only exist in smaller fragmented sites (area). The demand for timber from the industries increased and the earlier broad-leaved forests were instead planted with the fast-growing tree species such as spruce and pine which led to broad-leaved trees being cleared away with the herbicide Hormoslyr. Today broad-leaved trees have a bigger importance in the Swedish forests and the future looks brighter thanks to for example the certification, new technique, biodiversity, recreation and from a climate perspective. Among landowners there is a vaguely positive trend seen where it's more common to enshrine broad-leaved trees and in different ways of extension choosing to invest in broad-leaved trees. A clear indicator is a higher sale and increased demand for broad-leaved trees in Södra nursery. The aim with the survey is to investigate the prime factors that direct the interest among landowners to plant broad-leaved trees and how inspectors experience the interests for broad-leaved trees among landowners. The survey have been conducted by a literature study, a questionnaire survey with landowners and interviews with landowners and inspectors. The survey study and the interviews were addressed to Södras members that had ordered broad-leaved plants from Södra nursery and the interviews were done with the inspectors in Södras area of operation in Oskarström. In the literature study relevant information about broad-leaved trees was searched mainly in the databases Primo and Google Scholar. According to the results of the questionnaire survey and the interviews, the main factors why landowners chose to plant broad-leaved plants were nature and landscape conservation and climate impact. The reason why broad-leaved trees were important for landowners is for example a hope that an increased amount of broad-leaved trees will create a forest that is more resistant to storms, droughts and root decay. Other factors with great impact on the landowner were siteadaption, environmental consideration, production goals, recreation and curiosity. The most common trees that were planted was for example birch followed by a slightly lower amount of noble broad-leaved plants. Why a certain tree species were planted depended on what goals the landowner had with their forestry and how they responded to the noble broad-leaved law, because some landowners supported the law and others did not. When it comes to support for broad-leaved forest the support given from the inspectors was very differently experienced among landowners. In some cases, the inspectors only seemed to value the spruce and in other cases the landowners experienced good support and a great interest. What could be established is that landowners are more willing to consider the environment and how they could prevent future damages in the forest caused by climate changes. The choice to plant broad-leaved forest is mainly because of the landowners own interest about broad-leaved trees, but it is also affected by the younger generation that has a bigger interest for broad-leaved forests. The obstacles that remain to get an increased amount of broad-leaved forest is that it's expensive to retention broad-leaved trees, there are big problems with browsing and the sites demand a big amount of work. Probably that affects landowners to refrain from broad-leaved forests. Another important part is the big lack of knowledge about management of the broad-leaved forests, its characteristics and opportunities in the industry. The knowledge that is available about broad-leaved forest today is not spread as much as it should because the spruce often is more important. Some landowner emphasized that it's important to see the whole perspective in the management of the forest and therefore spread the risks for a sustainable future, but above all to spread the knowledge to other landowners

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature.

Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder where 70% of clinically diagnosed patients harbor a mutation in one of five CdLS associated cohesin proteins. Around 500 mutations have been identified to cause CdLS, however only eight different alterations are identified in RAD21, encoding the RAD21 cohesin protein that constitute the link between SMC1A and SMC3 within the cohesin ring. We report a 15- month-old boy presenting with developmental delay, distinct CdLS facial features, gastrointestinal reflux in early infancy, testis retention fetal pads and diaphragmatic hernia. Exome sequencing revealed a novel RAD21 variant, c.1774_1776del; p.(Gln592del), suggestive of CdLS type 4. Segregation analysis of the two healthy parents confirmed the variant as de novo and bioinformatic analysis predicted the variant as disease-causing. Functional assessment by in silico structural model predicted that the p.Gln592del variant results in a discontinued contact between RAD21-Lys591 and the SMC1A residues Glu1191 and Glu1192, causing changes in the RAD21-SMC1A interface. In conclusion, we report a novel RAD21 p.(Glu592del) variant that expands the clinical description of CdLS type 4 and validate the pathogenicity of the variant by in silico structural modeling that displayed disturbed RAD21-SMC1A interface.pre-print2,82 M

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype–phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. Full clinical information was available for 29 individuals. Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. Variants were frequently familial, and genotype–phenotype analyses demonstrated striking interfamilial and intrafamilial variability. Careful phenotyping is essential in interpreting consequences of RAD21 variants, and protein modeling and dynamics can be helpful in determining pathogenicity. The current study should be helpful when counseling families with a RAD21 variation.Spanish Ministry of Science, Innovation and Universities/State Research Agency RTC-2017-6494-1 and RTI2018-094434-B-I00 (MCIU/AEI/FEDER, UE) as well as funds from the European JPIAMR-VRI network “CONNECT” to PG-

Can L2 sentence processing strategies be native-like? Evidence from English speakers’ L2 processing of Chinese base-generated-topic sentences

This article reports on an empirical study examining English speakers’ L2 processing of Chinese base-generated-topic (BGT) sentences. Forty-four highly proficient English-speaking L2 learners of Chinese and 23 native Chinese speakers were involved in the study. Results of a self-paced reading task reveal that both native Chinese speakers’ and L2 Chinese learners’ processing of Chinese BGT sentences is syntactically induced in a top-down manner. English speakers are sensitive to and are able to make use of syntactic cues as well as semantic information in their processing of Chinese BGT sentences. The study provides disconfirming evidence against the Shallow Structure Hypothesis (Clahsen and Felser, 2006a,b), which predicts that unlike native speakers, L2 learners do not rely on structure-based processing strategies when solving ambiguities in L2 sentence processing

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Correction: Volume12, Issue1 Article Number7354 DOI10.1038/s41467-021-27675-w PublishedDEC 16 2021Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million genetic markers in up to 119,715 individuals and identify 74 genome-wide significant loci for TSH, of which 28 are previously unreported. Functional experiments show that the thyroglobulin protein-altering variants P118L and G67S impact thyroglobulin secretion. Phenome-wide association analysis in the UK Biobank demonstrates the pleiotropic effects of TSH-associated variants and a polygenic score for higher TSH levels is associated with a reduced risk of thyroid cancer in the UK Biobank and three other independent studies. Two-sample Mendelian randomization using TSH index variants as instrumental variables suggests a protective effect of higher TSH levels (indicating lower thyroid function) on risk of thyroid cancer and goiter. Our findings highlight the pleiotropic effects of TSH-associated variants on thyroid function and growth of malignant and benign thyroid tumors. Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. Here, the authors conduct a GWAS and suggest protective effect of higher TSH on risk of thyroid cancer and goitre.Peer reviewe

Author Correction:GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer

The original version of this article contained an error in the results, in the second paragraph of the subsection entitled “Fine-mapping for potentially causal variants among TSH loci”, in which effect sizes for two variants were incorrectly reported

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million genetic markers in up to 119,715 individuals and identify 74 genome-wide significant loci for TSH, of which 28 are previously unreported. Functional experiments show that the thyroglobulin protein-altering variants P118L and G67S impact thyroglobulin secretion. Phenome-wide association analysis in the UK Biobank demonstrates the pleiotropic effects of TSH-associated variants and a polygenic score for higher TSH levels is associated with a reduced risk of thyroid cancer in the UK Biobank and three other independent studies. Two-sample Mendelian randomization using TSH index variants as instrumental variables suggests a protective effect of higher TSH levels (indicating lower thyroid function) on risk of thyroid cancer and goiter. Our findings highlight the pleiotropic effects of TSH-associated variants on thyroid function and growth of malignant and benign thyroid tumors

Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease

Peer reviewe

Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. This project aims to investigate the underlying causes of unresolved Mendelian disorders, and especially syndromes associated with intellectual disability, by using cutting-edge sequencing techniques and molecular tools in a translational setting that intends to directly benefit affected families. In Paper I, we report the first keratitis-ichthyosis-deafness syndrome patient presenting with reversion of disease phenotype, a phenomenon known as revertant mosaicism. Third-generation sequencing and a cell assay were used to pin-point the mechanism of the somatic variants giving rise to healthy looking skin in the patient. In Paper II, we describe a novel approach to investigate parental origin, gonadal mosaicism, and estimate recurrence risk of disease in two families. Third-generation sequencing was used for haplotype phasing and detection of low-frequency variants in paternal sperm. The recurrence risk in future offspring in the families affected with Noonan syndrome and Treacher Collins syndrome was determined to be 40% and <0.1% respectively. In Paper III, we describe a novel variant in a patient affected with Cornelia de Lange Syndrome, primarily associated with intellectual disability. The affected gene is linked to an extremely rare form of the syndrome, with limited cases described in the literature, usually associated with mild symptoms. Investigation of rare intellectual disability syndromes was continued in Paper IV, by clinical and genetic characterization of six affected males with a likely pathogenic variant in the TAF1 gene. By creating the first TAF1 orthologue knockout we revealed that taf1 is essential for life and that lack of functional taf1 during embryonic development in zebrafish primarily impacts expression of genes in pathways associated with neurodevelopment.  By progressive translational research, using state-of-the-art methodology, this project has illuminated the implication of revertant and gonadal mosaicism in disease (Papers I-II), as well as two extremely rare intellectual disability syndromes (Papers III-IV). In total, five families affected with five different disorders have gained clinical and genetic diagnosis and/or further understanding of prognosis and recurrence risk. The study has led to improved understanding of disease etiology and basic developmental processes, enabling development of new therapies and improved care of future patients

Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. This project aims to investigate the underlying causes of unresolved Mendelian disorders, and especially syndromes associated with intellectual disability, by using cutting-edge sequencing techniques and molecular tools in a translational setting that intends to directly benefit affected families. In Paper I, we report the first keratitis-ichthyosis-deafness syndrome patient presenting with reversion of disease phenotype, a phenomenon known as revertant mosaicism. Third-generation sequencing and a cell assay were used to pin-point the mechanism of the somatic variants giving rise to healthy looking skin in the patient. In Paper II, we describe a novel approach to investigate parental origin, gonadal mosaicism, and estimate recurrence risk of disease in two families. Third-generation sequencing was used for haplotype phasing and detection of low-frequency variants in paternal sperm. The recurrence risk in future offspring in the families affected with Noonan syndrome and Treacher Collins syndrome was determined to be 40% and <0.1% respectively. In Paper III, we describe a novel variant in a patient affected with Cornelia de Lange Syndrome, primarily associated with intellectual disability. The affected gene is linked to an extremely rare form of the syndrome, with limited cases described in the literature, usually associated with mild symptoms. Investigation of rare intellectual disability syndromes was continued in Paper IV, by clinical and genetic characterization of six affected males with a likely pathogenic variant in the TAF1 gene. By creating the first TAF1 orthologue knockout we revealed that taf1 is essential for life and that lack of functional taf1 during embryonic development in zebrafish primarily impacts expression of genes in pathways associated with neurodevelopment.  By progressive translational research, using state-of-the-art methodology, this project has illuminated the implication of revertant and gonadal mosaicism in disease (Papers I-II), as well as two extremely rare intellectual disability syndromes (Papers III-IV). In total, five families affected with five different disorders have gained clinical and genetic diagnosis and/or further understanding of prognosis and recurrence risk. The study has led to improved understanding of disease etiology and basic developmental processes, enabling development of new therapies and improved care of future patients