Scholars@Duke
Adrianna Katrina San Roman

Adrianna Katrina San Roman

Assistant Professor of Molecular Genetics and Microbiology
Molecular Genetics and Microbiology
adrianna.sanroman@duke.edu
101 Science Drive, CIEMAS 2175, Box 3382, Durham, NC 27708
101 Science Drive, CIEMAS 2175, Durham, NC 27708

Scholarly Works

Transcriptional mechanisms of sex-biased gene expression and their connections to disease-associated variation.

Journal article Hum Mol Genet · March 23, 2026 Humans display sexual dimorphism across many traits, but little is known about underlying genetic mechanisms and impacts on disease. We utilized single-cell RNA-seq of 480 lymphoblastoid cell lines (LCLs) to identify 1200 genes with significantly sex-biase ... Full text Link to item Cite

Biological sex affects gene expression and functional variation across the human genome.

Preprint · April 14, 2025 Humans display sexual dimorphism across many traits, but little is known about underlying genetic mechanisms and impacts on disease. We utilized single-cell RNA-seq of 480 lymphoblastoid cell lines to identify 1200 genes with significantly sex-biased expre ... Full text Link to item Cite

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.

Journal article Cell Genom · September 11, 2024 Recent in vitro studies of human sex chromosome aneuploidy showed that the Xi ("inactive" X) and Y chromosomes broadly modulate autosomal and Xa ("active" X) gene expression. We tested these findings in vivo. Linear modeling of CD4+ T cells and monocytes f ... Full text Link to item Cite

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.

Journal article bioRxiv · March 19, 2024 Recent in vitro studies of human sex chromosome aneuploidy showed that the Xi ("inactive" X) and Y chromosomes broadly modulate autosomal and Xa ("active" X) gene expression in two cell types. We tested these findings in vivo in two additional cell types. ... Full text Link to item Cite

The human Y and inactive X chromosomes similarly modulate autosomal gene expression.

Journal article Cell Genom · January 10, 2024 Somatic cells of human males and females have 45 chromosomes in common, including the "active" X chromosome. In males the 46th chromosome is a Y; in females it is an "inactive" X (Xi). Through linear modeling of autosomal gene expression in cells from indi ... Full text Link to item Cite

The human inactive X chromosome modulates expression of the active X chromosome.

Journal article Cell Genom · February 8, 2023 The "inactive" X chromosome (Xi) has been assumed to have little impact, in trans, on the "active" X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one Xa and zero to three Xis. Our linear modeling revealed modular Xi and X ... Full text Link to item Cite

Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

Journal article Eur J Med Genet · March 2021 Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling f ... Full text Link to item Cite

A strategic research alliance: Turner syndrome and sex differences.

Journal article Am J Med Genet C Semin Med Genet · March 2019 Sex chromosome constitution varies in the human population, both between the sexes (46,XX females and 46,XY males), and within the sexes (e.g., 45,X and 46,XX females, and 47,XXY and 46,XY males). Coincident with this genetic variation are numerous phenoty ... Full text Open Access Link to item Cite

"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.

Journal article Am J Med Genet C Semin Med Genet · March 2019 At the Third Turner Resource Network Symposium, a working group presented the results of collaborative discussions about the importance of autopsy in Turner syndrome (TS). Considerable gaps in understanding the causes of death in TS can only be closed by m ... Full text Link to item Cite

Transcription factor-dependent 'anti-repressive' mammalian enhancers exclude H3K27me3 from extended genomic domains.

Journal article Genes Dev · December 1, 2017 Compacted chromatin and nucleosomes are known barriers to gene expression; the nature and relative importance of other transcriptional constraints remain unclear, especially at distant enhancers. Polycomb repressor complex 2 (PRC2) places the histone mark ... Full text Link to item Cite

Abstract LB-286: ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in mice

Conference Cancer Research · July 1, 2017 AbstractGenes encoding subunits of SWI/SNF (BAF) chromatin remodeling complexes are collectively mutated in ~20% of all human cancers, but the mechanism by which these mutations promote tumorigenesis is uncl ... Full text Cite

ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in mice.

Journal article Nat Genet · February 2017 Genes encoding subunits of SWI/SNF (BAF) chromatin-remodeling complexes are collectively mutated in ∼20% of all human cancers. Although ARID1A is the most frequent target of mutations, the mechanism by which its inactivation promotes tumorigenesis is uncle ... Full text Link to item Cite

Distinct Processes and Transcriptional Targets Underlie CDX2 Requirements in Intestinal Stem Cells and Differentiated Villus Cells.

Journal article Stem Cell Reports · November 10, 2015 Lgr5-expressing intestinal stem cells (ISCs) renew the adult gut epithelium by producing mature villus cells (VCs); the transcriptional basis for ISC functions remains unclear. RNA sequencing analysis identified transcripts modulated during differentiation ... Full text Link to item Cite

Transcription factors GATA4 and HNF4A control distinct aspects of intestinal homeostasis in conjunction with transcription factor CDX2.

Journal article J Biol Chem · January 16, 2015 Distinct groups of transcription factors (TFs) assemble at tissue-specific cis-regulatory sites, implying that different TF combinations may control different genes and cellular functions. Within such combinations, TFs that specify or maintain a lineage an ... Full text Link to item Cite

Dissecting engineered cell types and enhancing cell fate conversion via CellNet.

Journal article Cell · August 14, 2014 Engineering clinically relevant cells in vitro holds promise for regenerative medicine, but most protocols fail to faithfully recapitulate target cell properties. To address this, we developed CellNet, a network biology platform that determines whether eng ... Full text Link to item Cite

Wnt secretion from epithelial cells and subepithelial myofibroblasts is not required in the mouse intestinal stem cell niche in vivo.

Journal article Stem Cell Reports · February 11, 2014 Wnt signaling is a crucial aspect of the intestinal stem cell niche required for crypt cell proliferation and differentiation. Paneth cells or subepithelial myofibroblasts are leading candidate sources of the required Wnt ligands, but this has not been tes ... Full text Link to item Cite

Intestinal master transcription factor CDX2 controls chromatin access for partner transcription factor binding.

Journal article Mol Cell Biol · January 2013 Tissue-specific gene expression requires modulation of nucleosomes, allowing transcription factors to occupy cis elements that are accessible only in selected tissues. Master transcription factors control cell-specific genes and define cellular identities, ... Full text Link to item Cite

Boundaries, junctions and transitions in the gastrointestinal tract.

Journal article Exp Cell Res · November 15, 2011 Contiguous regions along the mammalian gastrointestinal tract, from the esophagus to the rectum, serve distinct digestive functions. Some organs, such as the esophagus and glandular stomach or the small bowel and colon, are separated by sharp boundaries. T ... Full text Link to item Cite

BZL101, a phytochemical extract from the Scutellaria barbata plant, disrupts proliferation of human breast and prostate cancer cells through distinct mechanisms dependent on the cancer cell phenotype.

Journal article Cancer Biol Ther · August 15, 2010 BZL101 is an aqueous extract from the Scutellaria barbata plant shown to have anticancer properties in a variety of human cancers. In order to determine its efficacy on human reproductive cancers, we assessed the responses of two human breast cancer cell l ... Full text Link to item Cite

Control of Arabidopsis meristem development by thioredoxin-dependent regulation of intercellular transport.

Journal article Proc Natl Acad Sci U S A · March 3, 2009 Cell-to-cell transport in plants occurs through cytoplasmic channels called "plasmodesmata" and is regulated by developmental and environmental factors. Callose deposition modulates plasmodesmal transport in vivo, but little is known about the mechanisms t ... Full text Link to item Cite

Role of phosphopantetheinyl transferase genes in antibiotic production by Streptomyces coelicolor.

Journal article J Bacteriol · October 2008 The phosphopantetheinyl transferase genes SCO5883 (redU) and SCO6673 were disrupted in Streptomyces coelicolor. The redU mutants did not synthesize undecylprodigiosin, while SCO6673 mutants failed to produce calcium-dependent antibiotic. Neither gene was e ... Full text Link to item Cite