Institute for Human Genetics

Newcastle upon Tyne, United Kingdom

Institute for Human Genetics

Newcastle upon Tyne, United Kingdom
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Westbroek E.M.,Center for Cerebrovascular Research | Pawlikowska L.,Center for Cerebrovascular Research | Pawlikowska L.,Institute for Human Genetics | McCulloch C.E.,Center for Cerebrovascular Research | And 3 more authors.
Stroke | Year: 2012

BACKGROUND AND PURPOSE-: The Val66Met polymorphism of brain-derived neurotrophic factor is associated with decreased brain-derived neurotrophic factor secretion and poor outcome after acute neurological injury. We hypothesized that the Met allele is associated with worsening of functional outcome after brain arteriovenous malformation resection. METHODS-: Three hundred forty-one surgically treated patients with brain arteriovenous malformation with outcome data were genotyped for Val66Met. Outcome was change in modified Rankin Scale preoperatively versus postoperatively, dichotomized into poor (change >0) or good outcome (change ≤0). Likelihood ratio tests for interactions and logistic regression analysis were performed. RESULTS-: A significant interaction (P=0.03) of Val66Met genotype and hemorrhagic presentation existed; thus, ruptured and unruptured patients were considered separately. The Met allele was associated with increased risk of poor outcome among patients presenting unruptured (OR, 2.15; 95% CI, 1.02-4.55; P=0.045) but not ruptured (OR, 0.54; 95% CI, 0.19-1.53; P=0.25), adjusting for covariates. CONCLUSIONS-: The Val66Met polymorphism is associated with worsened surgical outcome in patients with unruptured brain arteriovenous malformation, a group that currently has no good risk predictors. Further studies replicating these findings are needed. © 2012 American Heart Association, Inc.


Azad J.,James Cook University | Brennan P.,Institute for Human Genetics | Carmichael A.J.,James Cook University
Clinical and Experimental Dermatology | Year: 2013

Background Erythropoietic protoporphyria (EPP; OMIM #177000) is a rare disease that usually presents in infancy or early childhood. The uncommon adult-onset EPP is often associated with acquired somatic mutations of the FECH gene, secondary to blood dyscracias. Methods We investigated two sisters with adult-onset EPP. Results We found a novel germline mutation in the FECH gene, in trans with the common hypomorphic IVS3-48C allele. Conclusions The adult presentation and identical genotypes of the two sisters suggests that the late development of the condition is to an extent a function of the mutation. The exact mechanism for this delayed penetrance is not clear, although these atypical cases raise the possibility of other genetic or nongenetic disease-modifying factors. © 2013 British Association of Dermatologists.


Li C.-Y.,Program in Craniofacial and Mesenchymal Biology | Cha W.,Program in Craniofacial and Mesenchymal Biology | Luder H.-U.,University of Zürich | Charles R.-P.,University of California at San Francisco | And 4 more authors.
Developmental Biology | Year: 2012

Stem cells are essential for the regeneration and homeostasis of many organs, such as tooth, hair, skin, and intestine. Although human tooth regeneration is limited, a number of animals have evolved continuously growing teeth that provide models of stem cell-based organ renewal. A well-studied model is the mouse incisor, which contains dental epithelial stem cells in structures known as cervical loops. These stem cells produce progeny that proliferate and migrate along the proximo-distal axis of the incisor and differentiate into enamel-forming ameloblasts. Here, we studied the role of E-cadherin in behavior of the stem cells and their progeny. Levels of E-cadherin are highly dynamic in the incisor, such that E-cadherin is expressed in the stem cells, downregulated in the transit-amplifying cells, re-expressed in the pre-ameloblasts and then downregulated again in the ameloblasts. Conditional inactivation of E-cadherin in the cervical loop led to decreased numbers of label-retaining stem cells, increased proliferation, and decreased cell migration in the mouse incisor. Using both genetic and pharmacological approaches, we showed that Fibroblast Growth Factors regulate E-cadherin expression, cell proliferation and migration in the incisor. Together, our data indicate that E-cadherin is an important regulator of stem cells and their progeny during growth of the mouse incisor. © 2012 Elsevier Inc.


Nanda I.,Institute for Human Genetics | Schories S.,Biocenter | Tripathi N.,Max Planck Institute for Developmental Biology | Dreyer C.,Max Planck Institute for Developmental Biology | And 4 more authors.
Chromosoma | Year: 2014

Sex chromosomes differ from autosomes by dissimilar gene content and, at a more advanced stage of their evolution, also in structure and size. This is driven by the divergence of the Y or W from their counterparts, X and Z, due to reduced recombination and the resulting degeneration as well as the accumulation of sex-specific and sexually antagonistic genes. A paradigmatic example for Y-chromosome evolution is found in guppies. In these fishes, conflicting data exist for a morphological and molecular differentiation of sex chromosomes. Using molecular probes and the previously established linkage map, we performed a cytogenetic analysis of sex chromosomes. We show that the Y chromosome has a very large pseudoautosomal region, which is followed by a heterochromatin block (HCY) separating the subtelomeric male-specific region from the rest of the chromosome. Interestingly, the size of the HCY is highly variable between individuals from different population. The largest HCY was found in one population of Poecilia wingei, making the Y almost double the size of the X and the largest chromosome of the complement. Comparative analysis revealed that the Y chromosomes of different guppy species are homologous and share the same structure and organization. The observed size differences are explained by an expansion of the HCY, which is due to increased amounts of repetitive DNA. In one population, we observed also a polymorphism of the X chromosome. We suggest that sex chromosome-linked color patterns and other sexually selected genes are important for maintaining the observed structural polymorphism of sex chromosomes. © 2014 Springer-Verlag.


Zaitlen N.,Tel Aviv University | Pasaniuc B.,International Computer Science Institute | Gur T.,Tel Aviv University | Ziv E.,Institute for Human Genetics | And 2 more authors.
American Journal of Human Genetics | Year: 2010

Genome-wide association studies have been performed extensively in the last few years, resulting in many new discoveries of genomic regions that are associated with complex traits. It is often the case that a SNP found to be associated with the condition is not the causal SNP, but a proxy to it as a result of linkage disequilibrium. For the identification of the actual causal SNP, fine-mapping follow-up is performed, either with the use of dense genotyping or by sequencing of the region. In either case, if the causal SNP is in high linkage disequilibrium with other SNPs, the fine-mapping procedure will require a very large sample size for the identification of the causal SNP. Here, we show that by leveraging genetic variability across populations, we significantly increase the localization success rate (LSR) for a causal SNP in a follow-up study that involves multiple populations as compared to a study that involves only one population. Thus, the average power for detection of the causal variant will be higher in a joint analysis than that in studies in which only one population is analyzed at a time. On the basis of this observation, we developed a framework to efficiently search for a follow-up study design: our framework searches for the best combination of populations from a pool of available populations to maximize the LSR for detection of a causal variant. This framework and its accompanying software can be used to considerably enhance the power of fine-mapping studies. © 2010 The American Society of Human Genetics.


Pfeiffer M.J.,Max Planck Institute for Molecular Biomedicine | Esteves T.C.,Max Planck Institute for Molecular Biomedicine | Balbach S.T.,Max Planck Institute for Molecular Biomedicine | Arauzo-Bravo M.J.,Max Planck Institute for Molecular Biomedicine | And 5 more authors.
Stem Cells | Year: 2013

The conversion of the nuclear program of a somatic cell from a differentiated to an undifferentiated state can be accomplished by transplanting its nucleus to an enucleated oocyte (somatic cell nuclear transfer [SCNT]) in a process termed "reprogramming." This process achieves pluripo-tency and occasionally also totipotency. Exploiting the obstacle of tetraploidy to full development in mammals, we show that mouse ooplasts transplanted with two somatic nuclei simultaneously (double SCNT) support preimplantation development and derivation of novel tetraploid SCNT embryonic stem cells (tNT-ESCs). Although the double SCNT embryos do not recapitulate the expression pattern of the pluripotency-associated gene Oct4 in fertilized embryos, derivative tNT-ESCs have characteristics of genuine pluripotency: in vitro they differentiate into neurons, cardiomyocytes, and endodermal cells; in vivo, tNT-ESCs form teratomas, albeit at reduced rates compared to diploid counterparts. Global transcriptome analysis revealed only few specific alterations, for example, in the quantitative expression of gastrulation-associated genes. In conclusion, we have shown that the oocyte's reprogramming capacity is in excess of a single nucleus and that double nucleus-transplanted embryos and derivative ESCs are very similar to their diploid counterparts. These results have key implications for reprogramming studies based on pluripotency: while reprogramming in the tetraploid state was known from fusion-mediated reprogramming and from fetal and adult hepatocyte-derived induced pluripotent stem cells, we have now accomplished it with enucleated oocytes. ©C AlphaMed Press.


News Article | November 17, 2016
Site: www.sciencedaily.com

Some children suffer from completely tangled hair, which cannot be combed at all. In German, the phenomenon bears the apt name "uncombable hair syndrome" or even "Struwwelpeter syndrome." Researchers at the Universities of Bonn and Toulouse have identified mutations in three genes that are responsible for this. Scientists from a total of eight countries were involved in the work. The results were published in the American Journal of Human Genetics. Many parents know from their own experience that it is not always easy to comb children's hair. Yet with patience and nerves of steel, even the toughest of knots can usually be undone. In the case of "uncombable hair syndrome," brushes and combs don't stand even the hint of a chance. Those affected have extremely frizzy, dry, generally light blonde hair with a characteristic shine, which successfully resists any attempt to tame it. These symptoms are most pronounced in childhood and then ease over time. In adulthood, the hair can more or less be styled normally. Virtually nothing has so far been known about the causes -- particularly because the phenomenon is relatively rare. It was described in the specialist literature for the first time in 1973; since then, around one hundred cases have been documented worldwide. "However, we assume that there are much more people affected," explains Professor Regina Betz from the Institute for Human Genetics at the University of Bonn. "Those who suffer from uncombable hair do not necessarily seek help for this from a doctor or hospital." Nevertheless, it is known that the anomaly occurs more frequently in some families -- it thus appears to have genetic causes. Betz is a specialist for rare hereditary hair disorders. A few years ago, she was approached at a conference by a British colleague. He had recently examined a family with two affected children. The Bonn-based human geneticist's interest was piqued. "Via contact with colleagues from around the world, we managed to find nine further children," she explains. The scientists in Bonn sequenced all the genes of those affected. When comparing large databases, they thus came across mutations in three genes that are involved in forming the hair. The changed genes bear the identifiers PADI3, TGM3 and TCHH. The first two contain the assembly instructions for enzymes, while the third -- TCHH -- contains an important protein for the hair shaft. In healthy hair, the TCHH proteins are joined to each other with extremely fine strands of keratin, which are responsible for the shape and structure of the hair. During this process, the two other identified genes play an important role: "PADI3 changes the hair shaft protein TCHH in such a way that the keratin filaments can adhere to it," explains the lead author of the study, Dr. Fitnat Buket Basmanav Ünalan. "The TGM3 enzyme then produces the actual link." Together with colleagues from the University of Toulouse, the scientists in Bonn performed experiments in cell cultures. In these, they were able to show the importance of the identified mutations on the function of the proteins. If even just one of the three components is not functional, this has fundamental effects on the structure and stability of the hair. Mice in which the PADI3 or TGM3 gene is defective thus develop characteristic fur anomalies, which are very similar to the human phenotype. "From the mutations found, a huge amount can be learned about the mechanisms involved in forming healthy hair, and why disorders sometimes occur," says Professor Regina Betz, delighted. "At the same time, we can now secure the clinical diagnosis of 'uncombable hair' with molecular genetic methods." For people affected by hair disorders, this last point is good news: some hair anomalies are associated with severe concomitant diseases, which sometimes only become manifest in later life. However, Struwwelpeter syndrome generally occurs in isolation without any other health impairments. Uncombable hair may be tiresome and may also cause mental stress, says Betz. "However, those affected have no need to otherwise worry."


News Article | March 29, 2016
Site: www.biosciencetechnology.com

An international team of scientists, including groups from UC San Francisco, Gladstone Institutes, and the University of Cape Town (UCT), South Africa, have for the first time identified genes and gene regulatory elements that are essential in wing development in the Natal long-fingered bat (Miniopterus natalensis), a species widely distributed in eastern and southern Africa. The new research — presented in two papers published on March 28, one in Nature Genetics and one in PLoS Genetics — revealed regulatory switches that turn bat genes on and off at crucial times during limb development, and has implications for understanding how differences in the size, shape and structure of limbs are generated in mammals in general, including humans, the researchers said. “This gives us our first detailed picture of the genomics behind bat wing development,” said co-senior investigator Nadav Ahituv, Ph.D., a UCSF associate professor of bioengineering and therapeutic sciences in the UCSF School of Pharmacy and member of the UCSF Institute for Human Genetics, whose lab also studies the genetics of human limb malformations. “While some attempts have been made to identify the molecular events that led to the evolution of the bat wing, these have been primarily done on a ‘gene by gene’ basis. In contrast, this work lays out a genome-wide blueprint for the causes that led to the development of the bat wing, a key evolutionary innovation that contributed to bats becoming the second most diverse order of mammals.” Bats are the only mammals capable of powered flight — an innovation that is thought to have occurred about 50 million years ago. Biologists since Charles Darwin have used the structure of the bat wing as an example of both evolutionary novelty — the appearance of a new trait — and vertebrate homology, or shared ancestry between two seemingly different structures — in this case, the wing of the bat and the forelimb of other mammals. But the path of bats’ unique evolution is unclear, noted Nicola Illing, Ph.D., co-senior investigator in the Department of Molecular and Cell Biology at UCT. “The fossil record does not show the transition from tree-climbing mammals with short, free digits to ones that have elongated fingers supporting a wing,” Illing said. “Until now, scientists knew very little about how genes are turned on and off during bat embryonic development to transform a mammalian forelimb into a wing.” In the Nature Genetics paper, the scientists, including co-lead authors Walter L. Eckalbar, Ph.D., a postdoctoral fellow in Ahituv’s laboratory at UCSF, and Ph.D. student Stephen Schlebusch of UCT, first sequenced the entire genome of the Natal long-fingered bat. They then performed detailed molecular genomic analysis on bat embryos collected by Illing and her research group at the de Hoop Nature Reserve in South Africa. The researchers identified over 7,000 genes that are expressed differently in forelimbs compared with hindlimbs at three key stages of bat wing development. They found that many signaling pathways are activated differentially as well, including pathways important in limb formation, digit growth, long bone development and cell death. Also expressed differently are many proteins associated with ribosomes – molecular machines found in all cells that are responsible for protein production during limb development. “It took bats millions of years to evolve wings,” said Eckalbar. “Our work shows that they did this through thousands of genetic alterations, involving both genes used by all animals during limb development and genes whose usage in limb development may be unique to bats.” In addition, the scientists found thousands of genetic switches, called enhancers, which regulate the timing and levels of gene expression and show differences in activity between forelimbs and hindlimbs at these key stages of wing development. “Importantly, this work identified not just which genes are expressed at what stage of growth, but the genetic switches in the genome that are responsible for turning those genes on and off,” Ahituv said. In the study published in PLoS Genetics, the research team, including co-lead authors Betty M. Booker, Ph.D., a post-doctoral fellow in Ahituv’s laboratory, and Tara Friedrich, a Ph.D. student at UCSF and Gladstone Institutes, searched for the evolutionary origin of the bat wing. “We identified genomic sequences that have not changed in most vertebrates, but experienced rapid changes in the common ancestor of today’s bats,” explained Friedrich, a member of the laboratory of co-senior investigator Katherine S. Pollard, Ph.D., a senior investigator at the Gladstone Institutes, a UCSF professor of epidemiology and biostatistics, and a member of the UCSF Institute for Human Genetics. The team mapped these so-called “bat accelerated regions” (BARs) onto areas that were predicted to be important switches that turn genes on during limb development, and found 166 BARs with the potential to influence bat wing development. The researchers tested the effects of five of these BARs in genetically modified mouse embryos and found that all five bat sequences were capable of switching on a reporter gene in the developing mouse forelimb. They noted that one region, BAR116, is located near the HoxD genes, which are known to be involved in limb patterning and skeletal growth. Previously, Mandy Mason, a Ph.D. student at UCT, had shown that two of the HoxD genes — Hoxd10 and Hoxd11 — are far more active in bat wings compared to bat legs during their embryonic development. Following up these lines of evidence, the researchers showed that the bat BAR116 sequence appears to function as a genetic switch that is active in developing limbs, in particular the forelimbs, while the equivalent mouse sequence did not show any activity. “Our computational method enabled identification of DNA sequences that changed dramatically during the emergence of bats,” said Pollard. “It is exciting to see that this evolutionary signature pointed us to parts of the mammalian genome that control limb development.” In addition to unveiling new fundamental details of the evolutionary and developmental origins of powered flight in bats, the new research may provide broader insights into the biological processes that control how mammalian limbs develop in general, Ahituv said. “Importantly, this work will increase our understanding of how alterations in limb development could lead to limb malformations in humans,” he said. “Potentially, it could eventually help contribute to the development of tools and techniques to prevent such malformations.”


News Article | November 17, 2016
Site: www.eurekalert.org

Many parents know from their own experience that it is not always easy to comb children's hair. Yet with patience and nerves of steel, even the toughest of knots can usually be undone. In the case of "uncombable hair syndrome", brushes and combs don't stand even the hint of a chance. Those affected have extremely frizzy, dry, generally light blonde hair with a characteristic shine, which successfully resists any attempt to tame it. These symptoms are most pronounced in childhood and then ease over time. In adulthood, the hair can more or less be styled normally. Virtually nothing has so far been known about the causes - particularly because the phenomenon is relatively rare. It was described in the specialist literature for the first time in 1973; since then, around one hundred cases have been documented worldwide. "However, we assume that there are much more people affected," explains Professor Regina Betz from the Institute for Human Genetics at the University of Bonn. "Those who suffer from uncombable hair do not necessarily seek help for this from a doctor or hospital." Nevertheless, it is known that the anomaly occurs more frequently in some families - it thus appears to have genetic causes. Betz is a specialist for rare hereditary hair disorders. A few years ago, she was approached at a conference by a British colleague. He had recently examined a family with two affected children. The Bonn-based human geneticist's interest was piqued. "Via contact with colleagues from around the world, we managed to find nine further children," she explains. The scientists in Bonn sequenced all the genes of those affected. When comparing large databases, they thus came across mutations in three genes that are involved in forming the hair. The changed genes bear the identifiers PADI3, TGM3 and TCHH. The first two contain the assembly instructions for enzymes, while the third - TCHH - contains an important protein for the hair shaft. In healthy hair, the TCHH proteins are joined to each other with extremely fine strands of keratin, which are responsible for the shape and structure of the hair. During this process, the two other identified genes play an important role: "PADI3 changes the hair shaft protein TCHH in such a way that the keratin filaments can adhere to it," explains the lead author of the study, Dr. Fitnat Buket Basmanav Ünalan. "The TGM3 enzyme then produces the actual link." Together with colleagues from the University of Toulouse, the scientists in Bonn performed experiments in cell cultures. In these, they were able to show the importance of the identified mutations on the function of the proteins. If even just one of the three components is not functional, this has fundamental effects on the structure and stability of the hair. Mice in which the PADI3 or TGM3 gene is defective thus develop characteristic fur anomalies, which are very similar to the human phenotype. "From the mutations found, a huge amount can be learned about the mechanisms involved in forming healthy hair, and why disorders sometimes occur," says Professor Regina Betz, delighted. "At the same time, we can now secure the clinical diagnosis of 'uncombable hair' with molecular genetic methods." For people affected by hair disorders, this last point is good news: some hair anomalies are associated with severe concomitant diseases, which sometimes only become manifest in later life. However, Struwwelpeter syndrome generally occurs in isolation without any other health impairments. Uncombable hair may be tiresome and may also cause mental stress, says Betz. "However, those affected have no need to otherwise worry." Publication: F. Buket Ü. Basmanav et al.: Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome; The American Journal of Human Genetics; DOI: 10.1016/j.ajhg.2016.10.004


News Article | March 29, 2016
Site: phys.org

The new research—presented in two papers published on March 28, one in Nature Genetics and one in PLoS Genetics—revealed regulatory switches that turn bat genes on and off at crucial times during limb development, and has implications for understanding how differences in the size, shape and structure of limbs are generated in mammals in general, including humans, the researchers said. "This gives us our first detailed picture of the genomics behind bat wing development," said co-senior investigator Nadav Ahituv, PhD, a UCSF associate professor of bioengineering and therapeutic sciences in the UCSF School of Pharmacy and member of the UCSF Institute for Human Genetics, whose lab also studies the genetics of human limb malformations. "While some attempts have been made to identify the molecular events that led to the evolution of the bat wing, these have been primarily done on a 'gene by gene' basis. In contrast, this work lays out a genome-wide blueprint for the causes that led to the development of the bat wing, a key evolutionary innovation that contributed to bats becoming the second most diverse order of mammals." Bats are the only mammals capable of powered flight—an innovation that is thought to have occurred about 50 million years ago. Biologists since Charles Darwin have used the structure of the bat wing as an example of both evolutionary novelty—the appearance of a new trait—and vertebrate homology, or shared ancestry between two seemingly different structures—in this case, the wing of the bat and the forelimb of other mammals. But the path of bats' unique evolution is unclear, noted Nicola Illing, PhD, co-senior investigator in the Department of Molecular and Cell Biology at UCT. "The fossil record does not show the transition from tree-climbing mammals with short, free digits to ones that have elongated fingers supporting a wing," Illing said. "Until now, scientists knew very little about how genes are turned on and off during bat embryonic development to transform a mammalian forelimb into a wing." In the Nature Genetics paper, the scientists, including co-lead authors Walter L. Eckalbar, PhD, a postdoctoral fellow in Ahituv's laboratory at UCSF, and PhD student Stephen Schlebusch of UCT, first sequenced the entire genome of the Natal long-fingered bat. They then performed detailed molecular genomic analysis on bat embryos collected by Illing and her research group at the de Hoop Nature Reserve in South Africa. The researchers identified over 7,000 genes that are expressed differently in forelimbs compared with hindlimbs at three key stages of bat wing development. They found that many signaling pathways are activated differentially as well, including pathways important in limb formation, digit growth, long bone development and cell death. Also expressed differently are many proteins associated with ribosomes – molecular machines found in all cells that are responsible for protein production during limb development. "It took bats millions of years to evolve wings," said Eckalbar. "Our work shows that they did this through thousands of genetic alterations, involving both genes used by all animals during limb development and genes whose usage in limb development may be unique to bats." In addition, the scientists found thousands of genetic switches, called enhancers, which regulate the timing and levels of gene expression and show differences in activity between forelimbs and hindlimbs at these key stages of wing development. "Importantly, this work identified not just which genes are expressed at what stage of growth, but the genetic switches in the genome that are responsible for turning those genes on and off," Ahituv said. In the study published in PLoS Genetics, the research team, including co-lead authors Betty M. Booker, PhD, a post-doctoral fellow in Ahituv's laboratory, and Tara Friedrich, a PhD student at UCSF and Gladstone Institutes, searched for the evolutionary origin of the bat wing. "We identified genomic sequences that have not changed in most vertebrates, but experienced rapid changes in the common ancestor of today's bats," explained Friedrich, a member of the laboratory of co-senior investigator Katherine S. Pollard, PhD, a senior investigator at the Gladstone Institutes, a UCSF professor of epidemiology and biostatistics, and a member of the UCSF Institute for Human Genetics. The team mapped these so-called "bat accelerated regions" (BARs) onto areas that were predicted to be important switches that turn genes on during limb development, and found 166 BARs with the potential to influence bat wing development. The researchers tested the effects of five of these BARs in genetically modified mouse embryos and found that all five bat sequences were capable of switching on a reporter gene in the developing mouse forelimb. They noted that one region, BAR116, is located near the HoxD genes, which are known to be involved in limb patterning and skeletal growth. Previously, Mandy Mason, a PhD student at UCT, had shown that two of the HoxD genes—Hoxd10 and Hoxd11—are far more active in bat wings compared to bat legs during their embryonic development. Following up these lines of evidence, the researchers showed that the bat BAR116 sequence appears to function as a genetic switch that is active in developing limbs, in particular the forelimbs, while the equivalent mouse sequence did not show any activity. "Our computational method enabled identification of DNA sequences that changed dramatically during the emergence of bats," said Pollard. "It is exciting to see that this evolutionary signature pointed us to parts of the mammalian genome that control limb development." In addition to unveiling new fundamental details of the evolutionary and developmental origins of powered flight in bats, the new research may provide broader insights into the biological processes that control how mammalian limbs develop in general, Ahituv said. "Importantly, this work will increase our understanding of how alterations in limb development could lead to limb malformations in humans," he said. "Potentially, it could eventually help contribute to the development of tools and techniques to prevent such malformations." More information: Betty M. Booker et al. Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus, PLOS Genetics (2016). DOI: 10.1371/journal.pgen.1005738 Walter L Eckalbar et al. Transcriptomic and epigenomic characterization of the developing bat wing, Nature Genetics (2016). DOI: 10.1038/ng.3537

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