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Category: Genetics

Poor motherly care for newborn linked to a father’s gene?

Scientists from Cardiff University’s School of Biosciences reported that a father’s gene may have an impact on the quality of care that is furnished by the mother to her newborn offspring. One of the most crucial roles of a mother is being able to provide and attend to the needs of her offspring, especially during the time of conception up to the time of nursing the offspring. Good quality maternal care is essential to ensure a healthy development of the newborn and the recent study on mice suggests that a father’s gene may have an effect on the mother’s nurturing behavior towards her offspring before and after they are born.



Imprinting of genes

In humans, the zygote is a diploid cell that results from the union of two haploid sex cells. This means that the zygote will possess two copies of the genome, i.e. one coming from the mother and the other one from the father. The autosomal genes of the zygote would therefore occur in pairs or as two copies. Their expressions occur simultaneously except for a few genes whose expressions will depend on the parent-of-origin.  Depending on the parent source, one of the gene copies will be imprinted, which means it will be ”silent”. For example, a father’s gene that is imprinted will be “silent” and will not be expressed but the other copy of the gene (from the mother) will be expressed, or “vice versa“. This phenomenon is called genomic imprinting.  An imprinted gene is one in which the DNA is methylated. A methylated gene means that its expression is suppressed.1



Phlda2 gene – overview

Pleckstrin homology-like domain family A member 2 (Phlda2) gene is an example of a gene whose expression accords to the phenomenon of genomic imprinting. The gene is located in the cluster of imprinted genes on chromosome 11p15.5.2 It encodes for the Phlda2 protein. It was also found that only one copy of the Phlda2 gene is “switched on” and that the other copy of the gene that is “silent” comes from the father.3 In rodents, one of its physiological roles is identified to be associated with the regulation of the activity of the placental cells called spongiotrophoblasts, which are cells responsible for the production of placental hormones. It was reported that the Phlda2 gene controls their size, and therefore their hormone production activity. 3




Phlda2 gene – impact on mother’s behavior

Phlda2 gene activity may have an effect on the maternal care behavior


Scientists from Cardiff University’s School of Biosciences found that female mice carrying pup embryos with two active Phlda2 genes, and thus with relatively higher Phlda2 levels and probably reduced placental hormone activity, exhibited decreased nursing and grooming of pups but with an increased focus in nest building. On the contrary, mothers carrying pup embryos with lower Phlda2 levels were more focused at nurturing their pups than on nest building. They also identified corresponding changes in the brain regions essential for maternal care behavior (particularly, hippocampus and hypothalamus) of the mothers during pregnancy. Their findings implicate that the Phlda2 gene activity may have an effect on the maternal care behavior of mice.3



Based on the recent findings, scientists speculate that Phlda2 gene activity may also have an impact in human pregnancies.  Many regard motherhood as an epitome of a woman’s existence. Apparently, there are instances when the quality of maternal care provided to the child is inadequate due to various factors. If these findings are relevant to humans, then, this is a potential aspect to probe in order to understand the biology of maternal care behavior – one that involves Phlda2 gene.



— written by Maria Victoria Gonzaga



1 Genomic imprinting. (n.d.). Biology-Online Dictionary. Retrieved from
2 PHLDA2 pleckstrin homology like domain family A member 2 [Homo sapiens (human)]. (8 July 2018). National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved from
3 Creeth, H.D.J., McNamara, G.I., Tunster, S.J., Boque-Sastre, R., Allen, B., Sumption, L., et al. (2018). Maternal care boosted by paternal imprinting in mammals. PLoS Biol, DOI: 10.1371/journal.pbio.2006599

Colon cancer : Independent prognostic genes and mechanisms

Colon Cancer is the third most deadly cancer worldwide. There were more than 1.4 million cases each year and 694,000 deaths globally. The treatment of colon cancer includes chemotherapy, surgery and radiation therapy. However, advances in diagnosis and treatment leads to development and improvement in survival. Numerous data point out that genetic changes function as vital role in the development of colon and rectal cancer. In which regulatory molecules mRNA affects various molecular and cellular target including cancer cells. That is why, development in research used mRNA as based diagnostic biomarkers for colon cancer in human. Furthermore, certain kind of mRNA used to predict survival in colon cancer patients. As well as a better knowledge of molecular mechanisms and associated gene is important for early diagnosis and treatment.


ULBP2 a novel prognostic biomarker in Colon Cancer

ULBP2 is a potential biomarker in colon cancer survival. Previous study shows that matrix metalloproteinase-9 reveals as an important marker for postoperative prognosis in colorectal cancer patients. Also extracellular matrix plays a vital role in cancer progression in which it provides structural and biochemical support in cells.  Despite from all of these, digestion is also considered to have a major role related to cancer preventive activity. Additionally, an in vitro of peptides gastrointestinal digestion can inhibit colon cancer cells proliferation and inflammation. Moreover, recent study showed that up and down regulated mRNAs are largely amass in extracellular matrix and digestion. As a result, it would entails that abnormality of extracellular matrix and digestion takes part in colon cancer progression.


Furthermore, the Wnt signaling pathway gives clinical importance on various diseases including colon cancer. Since alteration of this pathway are mostly observed in colorectal cancer with microsatellite instability. So, inhibiting this pathway might be helpful strategy for targeting chemotherapy-resistance cells. Also drug metabolism determined resistance of colorectal cancer resorcinol-based heat shock protein 90 inhibitors. Therefore, Wnt signaling and drug metabolism are both important pathway enriched by up and down regulated mRNAs.


Prognostic biomarkers are very important and have the power to change the course of disease if only knew beyond prognostic factors. In this research ULBP2 gene that encodes cell surface glycoprotein located at chromosome 6 demonstrates prognostic biomarker for colon cancer. High level of ULBP2 is deemed independent indicator for overall survival and identified as the sole outstanding mRNA.


Source: Prepared by Joan Tura from BMC Biological Research

Volume 51:10 March 29, 2018

CRISPR caused gene damage? Rise and pitfall of the gene-editor

CRISPR as a gene editing tool made a prodigious leap forward in science. In 2015, it was heralded as Science’s 2015 Breakthrough of the Year.1 It stymied other impressive contenders like Ebola vaccine. It supersedes other gene-editing predecessors, such as TALENs (transcription activator-like effector nucleases) and ZFNs (zinc finger nucleases). Unlike these two, CRISPR does not need a custom protein for every targeted DNA sequence. It does, however, require a guide RNA (gRNA). Even so, the process of designing a gRNA is easier and less time-consuming than creating a custom protein. For that, it is favoured over other gene-editing tools.



The rise of a revolutionary gene-editing tool — CRISPR

CRISPR-Cas9 – a customizable tool that cuts and inserts small pieces of DNA at specific areas along a DNA strand. (Credit: Ernesto del Aguila III, National Human Genome Research Institute, NIH)


The discovery of CRISPR was indeed phenomenal. Short for clustered regularly interspaced short palindromic repeats, CRISPR swiftly opened avenues for biological and medical innovations. Initially identified as a family of viral DNA snippets, it was discovered to inherently protect bacteria against re-invading bacteriophages akin to our immune system’s adaptive immunity. This natural gene-editing system in bacteria has two key players: gRNA and Cas9 (CRISPR-associated enzyme). The gRNA finds and binds to specific DNA target. The Cas9 goes where the gRNA is, and then cuts the DNA target, disabling the latter. Now, scientists exploit it as a way to splice specific DNA targets and then replace them with a DNA that would yield the desired outcome. For instance, CRISPR can be used to correct physiological anomalies caused by gene mutations or defective genes.

CRISPR-Cas9 system. (Credit: marius walter, Wikimedia Commons under CC BY-SA 4.0 Int’l license)




CRISPR – a versatile gene-editing tool

CRISPR has been shown to have the potential to slow down the progression of cancers. It can switch off a gene in immune cells. The altered immune cells can be designed to fight cancer. In 2016, US FDA approved the clinical trial study where CRISPR technology would be used to cure patients with cancers. 2 Not only in biology and medicine, the use of CRISPR has also extended to agriculture and animal husbandry. Through it, the genes of crops and livestock can be improved. They can be made more resistant to certain diseases.




CRISPR causing gene damage?

One of the issues raised against CRISPR is ethical concerns. Similar to what was ethically raised against other gene-editing technologies, the concern is chiefly about the notion of bias and “playing God”. What are the standards that will define and permit judgment over a gene to be construed as either “good” or “bad”? But taking aside this issue, there is another issue being hurled against CRISPR. Marked of recent as “breaking news”, a study published in Nature warned about the possible pathogenic consequences of CRISPR when the researchers identified on-target mutagenesis in the form of large deletions and complex genomic rearrangements at target sites in mitotically active cells of mice and humans.3 This is not the first time that a study questioned the safety of CRISPR technology. In 2017, researchers from Columbia University reported that it led to hundreds of unexpected mutations. Nevertheless, this claim was retracted when they failed to replicate their results.4



CRISPR as a gene-editing tool wields so much potential beyond one can imagine. It is easy to use, feasible, and far-reaching. One can expect that issues would come along the way, and thus slow down its fast-paced utilization in different fields. It is a no-nonsense stumbling block for we belong in a community that moves forward through social discourse fueled by scientific nosiness and reasoning. Probing the dangers of CRISPR should be as extensive as exploring its benefits. We must be not too quick to adulate without first bringing out in the open its risks — especially ones that are as crucial as mutations and gene damage.



— written by Maria Victoria Gonzaga




1 Science News Staff. (2015). And Science’s 2015 Breakthrough of the Year is… Retrieved from

2 Reardon, S. (2016). First CRISPR clinical trial gets green light from US panel. Retrieved from

3 Kosicki, M., Tomberg, K. & Bradley, A. (2018 July 16). Repair of double-strand breaks induced by CRISPR–Cas9 leads to large deletions and complex rearrangements. Nature Biotechnology.

4 Dockrill, P. (2018 July 16). BREAKING: CRISPR Could Be Causing Extensive Mutations And Genetic Damage After All. Retrieved from

Not Junk: ‘Jumping Gene’ Is Critical For Early Embryo

Jumping genes, also known as transposons, are gaining momentum. They are considered either as slacking junks or maleficent parasites in our genome. As such, they are largely taken for granted. However, it seems the tables have turned. There seem to be certain jumping genes that without them we would not move past our embryonic state.  Researchers from the University of California – San Francisco presented proof that certain jumping genes do perform a crucial role during the development of an embryo.  Without them, the embryo would not progress as it should.1




Jumping genes — junk DNAs

Transposons are small segments of DNA  with a special capability. They create copies of the genetic material and then insert at random sites in the genome.2 For that, they are dubbed as “jumping genes” based on the “jumping” activities that they do. Some consider jumping genes as junk DNA because they tend to replicate needlessly multiple copies of DNAs that already exist. Some of these genetic copies could be noncoding (junk) DNAs. Our genome is comprised mostly of junk — about 98-99%! Only 1 or 2 % of it codes for the building blocks of proteins. Scientists presumed that these noncoding regions are unnecessary and therefore viewed as an evolutionary mess in our genome. Apparently, half of our genome is comprised of jumping genes, and the most common is the long interspersed nuclear element-1 (LINE1).1



Jumping genes — parasitic stowaways

While some people view jumping genes as slackers that add up to the pile of junk littering our genome, others see them as parasitic stowaways. Because they can “jump” at seemingly random sites in the genome, they could insert themselves where they might cause gene disruptions, deleterious mutations, and chromosomal rearrangements resulting in diseases, including cancer.3



LINE1 — a paradoxical jumping gene

LINE1 (a jumping gene) is crucial during embryonic development


Researchers from the University of California – San Francisco recently reported that LINE1 (a jumping gene) is crucial during embryonic development. LINE1 accounts for 20% or more of the human genome. It is a retrotransposon, meaning it is amplified by first transcribing a segment of DNA into RNA, and then reverse-transcribed into DNA. The extra DNA copy will then be inserted at a different site in the genome.2 This jumping gene apparently acts as a critical regulator during the early embryonic development. It appears indispensable for an embryo to develop past the two-cell stage.1 This finding seems paradoxical since LINE1 has been implicated in various diseases, particularly cancers.4 Nevertheless, the important role of LINE1 was revealed when it was eliminated from the fertilized eggs, and consequently, they all remained at the two-cell phase. Accordingly, the role of the jumping gene in embryonic development is associated with the LINE1 RNA forming a complex with Nucleolin and Kap1 (gene regulatory proteins). The complex is believed to regulate embryonic development by turning off the dominant genes orchestrating the embryo’s two-cell state as well as by turning on the genes that promote further cell divisions and development.1




Jumping genes are mostly underappreciated largely because they are believed to be contributors to a pile of genetic junk or as parasitic stowaways. Despite being regarded as such, recent findings poised them as crucial genes.   While most studies focus on the 1-2% of the genome performing a blatantly important role, i.e. to code for amino acids whereby a protein could be spectacularly built from, the recent study implicates that the jumping genes, too, deserve a spot in the research field.




— written by Maria Victoria Gonzaga




1 University of California – San Francisco. (2018, June 21). Not junk: ‘Jumping gene’ is critical for early embryo: Gene that makes up a fifth of the human genome is not a parasite, but key to the first stages of embryonic development. ScienceDaily. Retrieved from
2 Transposon. (n.d.). Biology-Online Dictionary. Retrieved from
3 Chénais, B. (2013). Transposable elements and human cancer: A causal relationship? Biochimica et Biophysica Acta (BBA) – Reviews on Cancer, 1835 (1), 28-35.
4 Burns, K. H. (2017). Transposable elements in cancer. Nature Reviews Cancer, 17, 415–424.

Immune characterization of Breast Cancer Metastases

Breast cancer is the occurrence of lumps or thickening of the surrounding tissues of the breast mostly in women. Yet it also occurs rarely in men. It leads to the changes in shape and appearance of the breast. As well as the changes of skin like peeling, scaling and crusting of the surrounding nipples. Nowadays, extensive support for breast cancer awareness has helped generate advances in treatment and diagnosis. In which survival rates increased while the death rates continuously declining. Due to some factors such as personalized approach for treatment, early detection and have better knowledge of the disease. In this particular research a tumor-infiltrating lymphocytes has been evaluated to convey prognostic information of the breast cancer metastases. Assess its levels, immune composition and ligand expression in metastatic lesions.


Tumor-infiltrating lymphocytes as an Immunogenicity of Breast cancer

Evidences suggest the potential of tumor-infiltrating lymphocytes as biomarker in breast cancer metastatic stage. Even at onset of disease it proves as prognostic biomarker in human epidermal growth factor receptor positive with breast cancer. 94 patients have been studied retrospectively with metastatic breast cancer. Younger women showed significant lowered tumor-infiltrating lymphocytes compared to older patients above 50 years of age. Generally tumor-infiltrating lymphocytes are low but have been recognized significantly at high level with patients having this disease. Moreover, previous reports indicate that at secondary or recurrence of disease a lower tumor-infiltrating lymphocytes level occurs.


Analysis of the characteristics of tumor immune infiltrate differs across metastatic sites. It also suggests that cutaneous tissues might harbor permissive immune microenvironment for tumor growth. In which immune heterogeneity across metastatic sites need to be explored because it is relevant in treatment and immunotherapy. Other factors that are significant to tumor-infiltrating lymphocytes composition are those patients treated with multiple lines of chemotherapy. Indeed, heavily pretreated patients might have an impaired antitumor cytotoxic activity of the immune system.


Therefore, tumor-infiltrating lymphocytes showed strong prognostic value in breast cancer patients. Further examinations of its relevance as biomarker reflect a general activation of the immune system. Thus, it indicates that tumor-infiltrating lymphocytes is a simple method that effectively appreciates the immune activation status of tissue negative tumor. Certainly, given the availability of standardized method of the assessment, this immune marker is technically simple and clinically reliable. Finally, tumor-infiltrating lymphocytes provide novel hypothesis-generating data with regards to immune composition and complex interplay with breast cancer metastatic setting.


Source: Prepared by Joan Tura from Springer BMC Breast Cancer Research

Volume 20:62, 22 June 2018

Prognostic biomarkers in Pancreatic Cancer

Pancreatic cancer started at the tissue of the pancreas – an organ in the abdomen that lies behind the lower stomach.  Pancreas releases hormones that helps in maintaining the sugar level in the blood and assist in digestion. Pancreatic cancer is hardly detected at early stage and it is recorded as third deadliest cancer in the United States. Some of its symptom includes weight loss, diabetes, jaundice, blood clots, depression and fatigue. However, it is usually characterized at late stage that has been already metastasized. Current therapy of this disease involves adjuvant chemotherapy, surgical resection and radiotherapy. Yet despite of the advancement of the clinical management and therapy the outcome remains unsatisfactory to the patients. So, this novel research of prognostic biomarker helps pancreatic cancer treatment to maximize survival and avoid toxicity.


miRNAs as Prognostic Biomarkers for Pancreatic Cancer

Due to poor prognosis of pancreatic cancer early detection methods have been developed. To have an effective treatment options as well as the importance of critical biomarkers. However, miRNAs shows significance for early detection and diagnosis. It divulges to have great potentials as prognostic biomarkers in pancreatic cancer. miRNAs are small non-coding RNA with 18-22 nucleotides in length that have been known to be associated with tumorigenesis. It is also linked to apoptosis, cell cycle control, proliferation, chemoresistance, metastasis and invasion. This miRNAs modulates key targets and pathways in signaling as well as its unusual expression are associated with chemoresistance.


In terms of chemotherapeutic treatment of pancreatic cancer miRNAs elevated expression inhibits the anti-tumor activity. miRNAs is related to gemcitabine resistance by inhibiting tumor suppressor gene phosphatase and tensin homologue thereby activating the PI3K/AKT pathway.  It is also showed that miRNAs expression correlates with prolong overall survival benefits from chemotherapeutic treatment. Additionally, down regulation of miRNAs is responsible for progression of various malignancies including pancreas, breast, prostate, lung and liver cancer. It contains anti-cancer role via modulating targets implicated in cell cycle, apoptosis and DNA repair.


Therefore, it is clear that pancreatic cancer utilizes various mechanisms to maintain a highly resistant phenotype. miRNAs epigenetic controls allow cells to quickly adapt to the genotoxic stress caused by chemotherapy. It is also quickly modulates the mRNA translation in pancreatic cancer cells in response to chemotherapeutic treatment. As a result, various kinds of miRNAs showed great potentials as prognostic biomarkers in pancreatic cancer. Optimistically, these biomarkers will form a solid foundation to have better clinical treatment strategies.To avoid toxicity and enhance the survival rate benefits.



Source: Prepared by Joan Tura from Springer BMC Biomarkers Research

Volume 6:18, 2018





Evolutionary History of Endemic Gastropod Assemblage in Lake Malawi

Evolutionary evidence showcases the importance of ancient species that evolved through million years ago and still existed at present time. Environmental changes, geographic movement and plate tectonic changes can affect the evolutionary process of a certain species morphologically for survival. The paper signifies the lineage of certain endemic gastropod species in Lake Malawi. The authors try to trace the evolutionary origin of this particular species predicting that this is an endemic species of the certain lake.


Evolutionary history of gastropod species in Lake Malawi

Environmental conditions are one of the contributory factors that affect the morphology of the gastropod Lanistes. Two species are said to be endemic of Malawi Lake these are the Lanistes ovum and Lanistes ellipticus.  Phylogenetic analysis shows that these two species did not cluster to any species found at the vicinity of Lake Malawi. The spatial vicinity of the nearby lakes was also examined for the presence of this gastropod, through morphological analysis. And it shows similarity but not genetically using mitochondrial COI gene as a biomarker.


Theoretically, a possible potential transition since at Lake Kazuni at around 50 km from Lake Malawi has Lanistes ovum complexes. Fossil record will always admit the origin of the certain species through time. The authors give importance on lineages as basis for taxonomic purposes and evolutionary processes. In which molecular time is relevant in shifting the morphogenetic properties of a certain species.


Indeed, Lake Malawi consists of endemic species to the entire Malawi rift rather than endemic to the lake proper.  It also signifies phylogenetic relationship within genus through parallel evolution.  And provides evidence that gastropod Lanistes species are not restricted in certain area but are present throughout Malawi rift.


Source: Prepared by Joan Tura from Proceedings Biology Science 

2009 Aug 7; 276(1668): 2837–2846




Men could go extinct? Y chromosome is slowly disappearing

Hold on to your seats, gentlemen — the male chromosome (Y chromosome) is slowly disappearing at a relatively fast rate and it might be gone completely in the future. This presumption is based on the genetic studies on the Y chromosome. It used to be genetically the same as the X chromosome. However, it has degenerated gradually, and now, it shriveled and became less relevant.




Y chromosome as male-determiner

Y Chromosome and DNA illustration. (Credit: Archaeogenetics, distributed by CC BY-SA 3.0 license)


Humans have two types of sex chromosomes: the X chromosome and the Y chromosome. Females have two X chromosomes whereas males have only one. Nonetheless, males have the Y chromosome that is passed on across generations from fathers to sons. In the XX/XY sex-determination system, the Y chromosome is the male-determining sex chromosome. Previously, the X chromosome was regarded as the sex-determiner. This conjecture, however, was eventually proven wrong when the SRY (sex-determining region Y) gene was identified on the male chromosome.1 This gene codes for the testis-determining factor, a protein that triggers testis development. Without this gene, testis fails to develop in males. There are few other genes present on the Y chromosome. However, compared with the X chromosome, the Y chromosome is relatively gene poor and the only highly notable gene on it is the SRY gene.




The disappearing Y chromosome debate

Going back in time, about 166 million years ago, the first mammals had a Y chromosome (called a proto-Y chromosome) that was genetically similar to and of the same size as the X chromosome.2 However, the male chromosome diminished into the short Y chromosome that it is now. The Y chromosome degenerates as it loses genes through time. Unlike the other chromosomes, the Y chromosome does not undergo genetic recombination. Based on the current speed of degeneration, the Y chromosome would likely have 4.6 million years left, which relatively speaking is not that long, considering the 3.5 billion years that life has existed on Earth.2 Some mammals, such as certain rodent species, have already lost their entire Y chromosome. 3 Some experts (referred to as the “leavers”) infer that this event would also happen to humans in the future. This notion was opposed by others (the “remainers”) who believe that the Y chromosome would not disappear completely because it has evolved corrective mechanisms that slow down and deter gene loss. Gene amplification (the acquisition of multiple gene copies) and the presence of palindromes (a sequence that reads the same, whether backward or forward, e.g. AGTGA) help mitigate gene loss.3




Men without Y chromosome in the future

Will men be extinct in the future?


If the Y chromosome ultimately disappears in the future, what will happen to men? Will there be men in the future? Experts believe that men will get by when that time comes. Men would still be around just as women have been perfectly fine without the Y chromosome. As for the SRY gene, it could move to a different chromosome. Nonetheless, the chromosome that would take this gene would be at risk of going through the same fate as that of the Y chromosome.3 The absence of SRY gene on the male chromosome is not new, however. In Swyer syndrome, the individual has a Y chromosome lacking the SRY gene and consequently fails to develop testis and other internal male organs. A person with this genetic condition is outwardly female but with a karyotype of a male (i.e. XY karyotype) .2




Further research on the degenerating male chromosome is essential to monitor the rate of gene loss on Y chromosome. One possible implication of the possible complete disappearance of Y chromosome is the impending necessity for more advanced reproductive modalities that can be applied artificially not just on humans but also on other mammals as reproduction by that time would ever hardly become natural.




— written by Maria Victoria Gonzaga




1 “Y chromosome”. (n.d.). Dictionary. Retrieved from [].
2 Griffin, D. & Ellis, P. (2018). The Y chromosome is disappearing – so what will happen to men?
Retrieved from
3 Griffin, D.K. Is the Y chromosome disappearing?—Both sides of the argument. Chromosome Res (2012) 20: 35.