Louise E Docherty- PhD
- Research Associate at University of Edinburgh
Louise E Docherty
- PhD
- Research Associate at University of Edinburgh
About
33
Publications
11,766
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Introduction
My imprinting research began with the identification and classification of transient neonatal diabetes (TND) patients. Using this cohort, I was able to further refine the critical region involved in 6q24 TND and described the differences in clinical presentation of the aetiological groups.
Subsequently my research has focus on investigating “complex” imprinting disorder patients with methylation mutations not limited to one locus, but affecting groups of imprinted loci throughout the genome.
Current institution
Additional affiliations
October 2015 - present
Position
- Lecturer
Description
- Lectures on the masters in genomics medicine course (Imprinting and Conventional methods in epigenetics) as part of the Health Education England 100 000 genomes project.
October 2015 - present
Position
- Facilitator
Description
- Facilitator of Imprinting workshop as part of masters in genomics medicine course.
September 2015 - present
Position
- Facilitator
Description
- Facilitate small group learning on various clinical topics as part of the Bachelor of Medicine 4 year course.
Publications
Publications (33)
Background: Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the early embryo for a small number of mammalian genes. Genetic, epigenetic or environmental insults that prevent imprints from evading reprogramming may result in imprinting disorders, which impact growth, development, behaviour and metaboli...
Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome. Some imprinting disorders have higher than expected prevalence of monozygotic twinning, of assisted reproductive technology among parents, and of dis...
Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically-acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases...
The Illumina Infinium HumanMethylation450 BeadChip is an array-based technology for analysing DNA methylation at approximately 475,000 differentially methylated cytosines across the human genome. Hitherto, the array has been used for case-control studies, where sample numbers can be sufficient to yield statistically robust data on a genome-wide bas...
Genomic imprinting is allelic restriction of gene expression potential depending on parent of origin, maintained by epigenetic mechanisms including parent of origin-specific DNA methylation. Among approximately 70 known imprinted genes are some causing disorders affecting growth, metabolism and cancer predisposition. Some imprinting disorder patien...
A girl aged 5 years 10 months was born as dizygotic twin of bipara pregnancy with weight 1970 g and length 45 cm in the family of healthy parents. The first child of the family was born with facial haemangioma and he died at age of 7 months. The sister -13 years of age and the twin brother are healthy. After the birth unusual weight loss was regist...
Imprinting disorders are associated with mutations and epimutations affecting imprinted genes, that is those whose expression is restricted by parent of origin. Their diagnosis is challenging for two reasons: firstly, their clinical features, particularly prenatal and postnatal growth disturbance, are heterogeneous and partially overlapping; second...
Imprinting disorders are associated with mutations and epimutations affecting imprinted genes, that is those whose expression is restricted by parent of origin. Their diagnosis is challenging for two reasons: firstly, their clinical features, particularly prenatal and postnatal growth disturbance, are heterogeneous and partially overlapping; second...
OBJECTIVE Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care, because it has impact on the phenotype and recurrence...
Aims/hypothesis:
6q24 transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes presenting in the neonatal period that remits during infancy but, in a proportion of cases, recurs in later life. We aim to describe the clinical presentation of 6q24 TNDM in the largest worldwide cohort of patients with defined molecular aetiology, in par...
OBJECTIVE
Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care, because it has impact on the phenotype and recurrence...
Introduction Transient Neonatal Diabetes Mellitus (TNDM) due to genetic aberrations at 6q24 is the commonest cause of diabetes presenting within the first week of life. It affects between 1:200,000 and 1:400,000 live births with the majority of infants born small for gestation age. TNDM predisposes to diabetes mellitus in later life.
We report on t...
The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 hypermethylation in 10% of BWS cases) and a g...
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported with clinical features of PWS but epigenetic mutat...
Table of custom array CGH data mapping the duplication borders in patients 1–15. The chromosomal location of the array CGH probes used is provided (Chr, Start and Stop) in addition to information on the gene or genomic region targeted by each probe (Gene). Accession numbers are also provided for targeted genes where available (Accession). Patients’...
Tables showing the competitive hypotheses testing of the MLPA results obtained for patients 15 and 12. Peak heights (raw data) have been normalised and slope corrected using internal control probes (indicated by green line) and four control samples (data not shown) prior to the calculation of the odds ratios p(normal):p(deleted) and p(normal):p(dup...
Transient neonatal diabetes (TND) is associated with overexpression of genes within a critical region on 6q24. This study aims to refine the boundaries of this region to reduce the number of potential candidate genes for 6q24 TND.
Fifteen patients with transient neonatal diabetes and submicroscopic chromosome 6 duplications were investigated. The d...
This study was an investigation of 79 patients referred to the Wessex Regional Genetics Laboratory with suspected Russell-Silver Syndrome or unexplained short stature/intra uterine growth restriction, warranting genetic investigation. Methylation status was analysed at target sequences within eleven imprinted loci (PLAGL1, IGF2R, PEG10, MEST1, GRB1...
6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted locus at 6q24. The cardinal features are: severe intrauterine growth retardation, hyperglycemia that begins in the neonatal period in a term infant and resolves by age 18 months, dehydration...
Questions
Question (1)
I am looking for advice on which epitope tags and antibody combinations people have successfully used to generate ChIP-seq quality pull-downs. I have already tried the HaloTag system from Promega which does not work for my TF of choice so am looking to add a smaller tag to my TF under the control of an inducible promoter to achieve native expression levels. From looking on-line I have seen mixed reviews for several tags (Specifically HA, His, Ty1 and V5) but no specific information on the antibodies/capture being used. Additionally, I thought that a TAP capture method may offer better signal to background ratio than standard immunoprecipitation but there is little evidence of this being widely used which has me questioning it's effectiveness for ChIP-seq application.
It would be very valuable to me if people could share their real lab experience of using tagged protein ChIP-seq and what has worked for them.
