Komposisi dan Kemelimpahan Fitoplankton di Laguna Glagah Kabupaten Kulonprogo Provinsi Daerah Istimewa YOGYAKARTA

Penelitian bertujuan untuk: 1) mengidentifikasi jenis fitoplankton di laguna Glagah; 2) meng-identifikasi kemelimpahan fitoplankton di laguna Glagah; 3) mempelajari hubungan faktor fisiko-kimia lingkungan dengan kemelimpahan fitoplankton di laguna Glagah. Penelitian dilaksanakan pada tanggal 10 Desember 2012 di laguna Glagah desa Glagah kecamatan Temon Kabupaten Kulonprogo DIY. Pengambilan sampel dilakukan pada 3 stasiun pengamatan untuk mengidentifikasi faktor fisiko-kimia (pH, DO, dan alkalinitas) dan mengidentifikasi fitoplankton. Pengamatan dilakukan sebanyak 2 kali yaitu pada pukul 08.00 WIB (pagi) dan 13.00 WIB (siang). Pengujian faktor fisiko-kimia dan identifikasi fito-plankton dilakukan di laboratorium ekologi Fakultas Biologi UGM. Hasil penelitian menunjukkan bahwa fitoplankton yang ditemukan di laguna Glagah berjumlah 9 spesies dalam 3 fungsional grup dengan kemelimpahan rata-rata sebesar 1839.667 individu/L pada pagi hari dan 1640,333 pada siang hari. Fitoplankton yang paling melimpah adalah diatom. Berdasarkan analisis regresi korelasi antara kemelimpahan fitoplankton dan faktor fisiko-kimia perairan Laguna Glagah maka diperoleh kesimpulan bahwa terdapat hubungan antara faktor fisiko kimia meliputi pH, DO, dan alkalinitas dengan kemelimpahan fitoplankton

Two genetic loci associated with ankle injury

Ankle injuries, including sprains, strains and other joint derangements and instability, are common, especially for athletes involved in indoor court or jumping sports. Identifying genetic loci associated with these ankle injuries could shed light on their etiologies. A genome-wide association screen was performed using publicly available data from the Research Program in Genes, Environment and Health (RPGEH) including 1,694 cases of ankle injury and 97,646 controls. An indel (chr21:47156779:D) that lies close to a collagen gene, COL18A1, showed an association with ankle injury at genome-wide significance (p = 3.8x10-8; OR = 1.99; 95% CI = 1.75–2.23). A second DNA variant (rs13286037 on chromosome 9) that lies within an intron of the transcription factor gene NFIB showed an association that was nearly genome-wide significant (p = 5.1x10-8; OR = 1.63; 95% CI = 1.46–1.80). The ACTN3 R577X mutation was previously reported to show an association with acute ankle sprains, but did not show an association in this cohort. This study is the first genome-wide screen for ankle injury that yields insights regarding the genetic etiology of ankle injuries and provides DNA markers with the potential to inform athletes about their genetic risk for ankle injury

Transcriptional recapitulation and subversion of embryonic colon development by mouse colon tumor models and human colon cancer

Abstract Background The expression of carcino-embryonic antigen by colorectal cancer is an example of oncogenic activation of embryonic gene expression. Hypothesizing that oncogenesis-recapitulating-ontogenesis may represent a broad programmatic commitment, we compared gene expression patterns of human colorectal cancers (CRCs) and mouse colon tumor models to those of mouse colon development embryonic days 13.5-18.5. Results We report here that 39 colon tumors from four independent mouse models and 100 human CRCs encompassing all clinical stages shared a striking recapitulation of embryonic colon gene expression. Compared to normal adult colon, all mouse and human tumors over-expressed a large cluster of genes highly enriched for functional association to the control of cell cycle progression, proliferation, and migration, including those encoding MYC, AKT2, PLK1 and SPARC. Mouse tumors positive for nuclear β-catenin shifted the shared embryonic pattern to that of early development. Human and mouse tumors differed from normal embryonic colon by their loss of expression modules enriched for tumor suppressors (EDNRB, HSPE, KIT and LSP1). Human CRC adenocarcinomas lost an additional suppressor module (IGFBP4, MAP4K1, PDGFRA, STAB1 and WNT4). Many human tumor samples also gained expression of a coordinately regulated module associated with advanced malignancy (ABCC1, FOXO3A, LIF, PIK3R1, PRNP, TNC, TIMP3 and VEGF). Conclusion Cross-species, developmental, and multi-model gene expression patterning comparisons provide an integrated and versatile framework for definition of transcriptional programs associated with oncogenesis. This approach also provides a general method for identifying pattern-specific biomarkers and therapeutic targets. This delineation and categorization of developmental and non-developmental activator and suppressor gene modules can thus facilitate the formulation of sophisticated hypotheses to evaluate potential synergistic effects of targeting within- and between-modules for next-generation combinatorial therapeutics and improved mouse models

Transcriptional recapitulation and subversion of embryonic colon development by mouse colon tumor models and human colon cancer

Colon tumors from four independent mouse models and 100 human colorectal cancers all exhibited striking recapitulation of embryonic colon gene expression from embryonic days 13.5-18.5

Genome-wide association study identifies a locus associated with rotator cuff injury

Rotator cuff tears are common, especially in the fifth and sixth decades of life, but can also occur in the competitive athlete. Genetic differences may contribute to overall injury risk. Identifying genetic loci associated with rotator cuff injury could shed light on the etiology of this injury. We performed a genome-wide association screen using publically available data from the Research Program in Genes, Environment and Health including 8,357 cases of rotator cuff injury and 94,622 controls. We found rs71404070 to show a genome-wide significant association with rotator cuff injury with p = 2.31x10-8 and an odds ratio of 1.25 per allele. This SNP is located next to cadherin8, which encodes a protein involved in cell adhesion. We also attempted to validate previous gene association studies that had reported a total of 18 SNPs showing a significant association with rotator cuff injury. However, none of the 18 SNPs were validated in our dataset. rs71404070 may be informative in explaining why some individuals are more susceptible to rotator cuff injury than others

Genotype distributions for chr21:47156779:D and rs13286037.

<p>Genotype distributions for chr21:47156779:D and rs13286037.</p

Ankle injury phenotypes classified by ICD and/or CPT codes.

<p>Ankle injury phenotypes classified by ICD and/or CPT codes.</p

Regional-association plot for chr21:47156779:D with ankle injury.

<p>Tested SNPs are arranged by genomic position on chromosome 21 (x-axis) in a 600 kb window around the lead SNP chr21:47156779:D (purple diamond). The y-axis indicates -log₁₀ p-values for association with ankle injury for each SNP. chr21:47156779:D is located in the intergenic region between <i>COL18A1/SLC19A1</i> and <i>PCBP3</i>. The location of <i>LINC00205</i> is not shown. The color of dots of the flanking SNPs indicates their linkage disequilibrium (R²) with the lead SNP as indicated by the heat map color key.</p

Sensitivity analysis for association with ankle sprains/strains and ankle/foot derangements.

<p>Sensitivity analysis for association with ankle sprains/strains and ankle/foot derangements.</p

Demographic factors of the GERA study population used in genome-wide association analyses of ankle injury.

<p>Demographic factors of the GERA study population used in genome-wide association analyses of ankle injury.</p