The Experts below are selected from a list of 96 Experts worldwide ranked by ideXlab platform
Alexander N Yatsenko - One of the best experts on this subject based on the ideXlab platform.
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high resolution microarray analysis unravels complex xq28 aberrations in patients and carriers affected by x linked blue cone monochromacy
Clinical Genetics, 2016Co-Authors: Svetlana A Yatsenko, Barbara J Jennings, Heather A Bakos, Kathleen Vitullo, Marina Kedrov, Archana Kishore, Urvashi Surti, Michelle A Woodtrageser, Stephen Cercone, Alexander N YatsenkoAbstract:A loss-of-function of both the OPN1LW (red) and OPN1MW (green) cone opsin photopigment genes causes blue cone monochromacy (BCM; OMIM#303700), a rare X-linked, recessive disorder characterized by markedly reduced vision, severe photophobia, congenital nystagmus, and inability to discriminate colors. In humans, up to nine copies of the OPN1LW and OPN1MW genes are arranged in a 5′ −3′ orientation within Xq28, forming the cluster (1–3). The close physical location and high (99.8%) Sequence homology predispose this genomic region to non-allelic homologous recombination, which results in deletions, duplications, and the formation of OPN1LW/OPN1MW-hybrid genes (4–6). In the normal human retina, only the most proximal two genes in the cluster are expressed (2). Red or green expression in cone photoreceptors is accomplished by interaction of the gene promoter with a locus control region (LCR), a unique cis-Regulatory DNA Sequence located ~4 kb upstream of OPN1LW (7). In about 90% of males affected by BCM, Xq28 deletions or point mutations inactivating both OPN1LW and OPN1MW have been identified by polymerase chain reaction (PCR)-based molecular testing, while ~10% of patients have negative results and the molecular defects remain unknown (2, 6), precluding accurate information on disease progression in affected males and female carriers, carrier and prenatal testing, potential approaches, and efficiency of gene therapy. The Xq28 deletions may remove the LCR, inactivating both wild-type opsin genes, or extend into the opsin cluster (4, 6). The complex structure of the LCR and opsin genes, the presence of highly homologous Sequences, and variability within the opsin genomic region among human populations pose multiple challenges and limit the effectiveness of diagnostic and carrier testing in families with BCM. Microarray platforms are now used extensively for diagnosis and research to detect genomic imbalances contributing to human disease and population diversity (8, 9). High-resolution microarrays provide distinct benefits in studying males affected with X-linked disorders (9). Single gene alterations are more likely to be present in affected males; however, the resolution of clinical whole-genome microarray platforms, ranging from 25–200 kb, is often insufficient to detect smaller X-chromosome imbalances. We identified novel molecular alterations in three BCM families, using high-resolution X chromosome-targeted (X-HR) array comparative genomic hybridization (aCGH) and report the advantages and limitations of microarray analysis in the diagnosis of BCM and other X-linked conditions.
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High‐resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X‐linked blue cone monochromacy
Clinical Genetics, 2015Co-Authors: Svetlana A Yatsenko, Barbara J Jennings, Heather A Bakos, Kathleen Vitullo, Marina Kedrov, Archana Kishore, Urvashi Surti, Stephen Cercone, Michelle A. Wood-trageser, Alexander N YatsenkoAbstract:A loss-of-function of both the OPN1LW (red) and OPN1MW (green) cone opsin photopigment genes causes blue cone monochromacy (BCM; OMIM#303700), a rare X-linked, recessive disorder characterized by markedly reduced vision, severe photophobia, congenital nystagmus, and inability to discriminate colors. In humans, up to nine copies of the OPN1LW and OPN1MW genes are arranged in a 5′ −3′ orientation within Xq28, forming the cluster (1–3). The close physical location and high (99.8%) Sequence homology predispose this genomic region to non-allelic homologous recombination, which results in deletions, duplications, and the formation of OPN1LW/OPN1MW-hybrid genes (4–6). In the normal human retina, only the most proximal two genes in the cluster are expressed (2). Red or green expression in cone photoreceptors is accomplished by interaction of the gene promoter with a locus control region (LCR), a unique cis-Regulatory DNA Sequence located ~4 kb upstream of OPN1LW (7). In about 90% of males affected by BCM, Xq28 deletions or point mutations inactivating both OPN1LW and OPN1MW have been identified by polymerase chain reaction (PCR)-based molecular testing, while ~10% of patients have negative results and the molecular defects remain unknown (2, 6), precluding accurate information on disease progression in affected males and female carriers, carrier and prenatal testing, potential approaches, and efficiency of gene therapy. The Xq28 deletions may remove the LCR, inactivating both wild-type opsin genes, or extend into the opsin cluster (4, 6). The complex structure of the LCR and opsin genes, the presence of highly homologous Sequences, and variability within the opsin genomic region among human populations pose multiple challenges and limit the effectiveness of diagnostic and carrier testing in families with BCM. Microarray platforms are now used extensively for diagnosis and research to detect genomic imbalances contributing to human disease and population diversity (8, 9). High-resolution microarrays provide distinct benefits in studying males affected with X-linked disorders (9). Single gene alterations are more likely to be present in affected males; however, the resolution of clinical whole-genome microarray platforms, ranging from 25–200 kb, is often insufficient to detect smaller X-chromosome imbalances. We identified novel molecular alterations in three BCM families, using high-resolution X chromosome-targeted (X-HR) array comparative genomic hybridization (aCGH) and report the advantages and limitations of microarray analysis in the diagnosis of BCM and other X-linked conditions.
Svetlana A Yatsenko - One of the best experts on this subject based on the ideXlab platform.
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high resolution microarray analysis unravels complex xq28 aberrations in patients and carriers affected by x linked blue cone monochromacy
Clinical Genetics, 2016Co-Authors: Svetlana A Yatsenko, Barbara J Jennings, Heather A Bakos, Kathleen Vitullo, Marina Kedrov, Archana Kishore, Urvashi Surti, Michelle A Woodtrageser, Stephen Cercone, Alexander N YatsenkoAbstract:A loss-of-function of both the OPN1LW (red) and OPN1MW (green) cone opsin photopigment genes causes blue cone monochromacy (BCM; OMIM#303700), a rare X-linked, recessive disorder characterized by markedly reduced vision, severe photophobia, congenital nystagmus, and inability to discriminate colors. In humans, up to nine copies of the OPN1LW and OPN1MW genes are arranged in a 5′ −3′ orientation within Xq28, forming the cluster (1–3). The close physical location and high (99.8%) Sequence homology predispose this genomic region to non-allelic homologous recombination, which results in deletions, duplications, and the formation of OPN1LW/OPN1MW-hybrid genes (4–6). In the normal human retina, only the most proximal two genes in the cluster are expressed (2). Red or green expression in cone photoreceptors is accomplished by interaction of the gene promoter with a locus control region (LCR), a unique cis-Regulatory DNA Sequence located ~4 kb upstream of OPN1LW (7). In about 90% of males affected by BCM, Xq28 deletions or point mutations inactivating both OPN1LW and OPN1MW have been identified by polymerase chain reaction (PCR)-based molecular testing, while ~10% of patients have negative results and the molecular defects remain unknown (2, 6), precluding accurate information on disease progression in affected males and female carriers, carrier and prenatal testing, potential approaches, and efficiency of gene therapy. The Xq28 deletions may remove the LCR, inactivating both wild-type opsin genes, or extend into the opsin cluster (4, 6). The complex structure of the LCR and opsin genes, the presence of highly homologous Sequences, and variability within the opsin genomic region among human populations pose multiple challenges and limit the effectiveness of diagnostic and carrier testing in families with BCM. Microarray platforms are now used extensively for diagnosis and research to detect genomic imbalances contributing to human disease and population diversity (8, 9). High-resolution microarrays provide distinct benefits in studying males affected with X-linked disorders (9). Single gene alterations are more likely to be present in affected males; however, the resolution of clinical whole-genome microarray platforms, ranging from 25–200 kb, is often insufficient to detect smaller X-chromosome imbalances. We identified novel molecular alterations in three BCM families, using high-resolution X chromosome-targeted (X-HR) array comparative genomic hybridization (aCGH) and report the advantages and limitations of microarray analysis in the diagnosis of BCM and other X-linked conditions.
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High‐resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X‐linked blue cone monochromacy
Clinical Genetics, 2015Co-Authors: Svetlana A Yatsenko, Barbara J Jennings, Heather A Bakos, Kathleen Vitullo, Marina Kedrov, Archana Kishore, Urvashi Surti, Stephen Cercone, Michelle A. Wood-trageser, Alexander N YatsenkoAbstract:A loss-of-function of both the OPN1LW (red) and OPN1MW (green) cone opsin photopigment genes causes blue cone monochromacy (BCM; OMIM#303700), a rare X-linked, recessive disorder characterized by markedly reduced vision, severe photophobia, congenital nystagmus, and inability to discriminate colors. In humans, up to nine copies of the OPN1LW and OPN1MW genes are arranged in a 5′ −3′ orientation within Xq28, forming the cluster (1–3). The close physical location and high (99.8%) Sequence homology predispose this genomic region to non-allelic homologous recombination, which results in deletions, duplications, and the formation of OPN1LW/OPN1MW-hybrid genes (4–6). In the normal human retina, only the most proximal two genes in the cluster are expressed (2). Red or green expression in cone photoreceptors is accomplished by interaction of the gene promoter with a locus control region (LCR), a unique cis-Regulatory DNA Sequence located ~4 kb upstream of OPN1LW (7). In about 90% of males affected by BCM, Xq28 deletions or point mutations inactivating both OPN1LW and OPN1MW have been identified by polymerase chain reaction (PCR)-based molecular testing, while ~10% of patients have negative results and the molecular defects remain unknown (2, 6), precluding accurate information on disease progression in affected males and female carriers, carrier and prenatal testing, potential approaches, and efficiency of gene therapy. The Xq28 deletions may remove the LCR, inactivating both wild-type opsin genes, or extend into the opsin cluster (4, 6). The complex structure of the LCR and opsin genes, the presence of highly homologous Sequences, and variability within the opsin genomic region among human populations pose multiple challenges and limit the effectiveness of diagnostic and carrier testing in families with BCM. Microarray platforms are now used extensively for diagnosis and research to detect genomic imbalances contributing to human disease and population diversity (8, 9). High-resolution microarrays provide distinct benefits in studying males affected with X-linked disorders (9). Single gene alterations are more likely to be present in affected males; however, the resolution of clinical whole-genome microarray platforms, ranging from 25–200 kb, is often insufficient to detect smaller X-chromosome imbalances. We identified novel molecular alterations in three BCM families, using high-resolution X chromosome-targeted (X-HR) array comparative genomic hybridization (aCGH) and report the advantages and limitations of microarray analysis in the diagnosis of BCM and other X-linked conditions.
Dinah S Singer - One of the best experts on this subject based on the ideXlab platform.
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major histocompatibility class i gene transcription in thyrocytes a series of interacting Regulatory DNA Sequence elements mediate thyrotropin cyclic adenosine 3 5 monophosphate repression
Molecular Endocrinology, 2000Co-Authors: Susan L Kirshner, Lisa Palmer, Josef Bodor, Moto Saji, Leonard D Kohn, Dinah S SingerAbstract:In response to TSH, thyroid cells decrease major histocompatibility (MHC) class I expression and transcription, providing an excellent model for studying the dynamic modulation of transcription of MHC class I genes. Here we show that protein kinase A (PKA), a downstream effector of the TSH/cAMP pathway, reproduces the effects of TSH in repressing class I transcription. PKA/cAMP-mediated repression of transcription involves multiple interacting upstream response elements in the class I promoter: an element extending from− 127 to −90 bp containing a CRE-like core, and at least two elements within an upstream 30-bp segment (−160 to −130 bp), which overlaps with the interferon Regulatory element. ICER (inducible cAMP early response), a transcriptional repressor induced by TSH/cAMP can decrease class I promoter activity when introduced into FRTL-5 thyroid cells in the absence of TSH/cAMP. ICER binds to both the CRE-like element and the upstream 30-bp segment, generating a novel TSH-induced ternary complex. The...
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in vivo function of Regulatory DNA Sequence elements of a major histocompatibility complex class i gene
Molecular and Cellular Biology, 1992Co-Authors: J E Maguire, W I Frels, J C Richardson, Jocelyn D Weissman, Dinah S SingerAbstract:: Major histocompatibility complex class I genes are expressed in nearly all somatic tissues, although their level of expression varies. By analysis of a set of promoter deletion mutants introduced into transgenic mice, a complex Regulatory element, consisting of overlapping enhancer and silencer activities, is demonstrated to function as a tissue-specific regulator of class I expression. The enhancer activity predominates in lymphoid tissues but not in nonlymphoid tissues. In contrast to the tissue-specific functions of the complex Regulatory element, a second novel silencer element is shown to function in both lymphoid and nonlymphoid tissues. The complement of DNA-binding factors in different cell lines is shown to correlate with the levels of class I expression.
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expression of a class i mhc transgene regulation by a tissue specific negative Regulatory DNA Sequence element
The New biologist, 1990Co-Authors: W I Frels, C Bordallo, Hana Golding, A Rosenberg, Stuart Rudikoff, Dinah S SingerAbstract:: In vivo patterns of expression of a miniature swine class I major histocompatibility gene, PD7, were analyzed both in situ in the pig, and in transgenic mice. Structural analysis of PD7 DNA Sequences revealed that PD7 is highly homologous to the pig gene PD1, which encodes a classical transplantation antigen. Despite the extensive homology, PD7 is expressed in situ at markedly lower levels than PD1 in nearly all tissues. Introduction of PD7 into mice results in a pattern of PD7 expression in the transgenic animals that parallels that observed in situ in the pig. Comparison of two lines of PD7 transgenic mice, which differ only in the extent of 5' flanking Sequence, reveals the presence of a silencer element. The silencer activity is tissue specific: differences in PD7 expression are observed only in lymphoid tissues and skin. Skin from both lines of transgenics mediates graft rejection, but the rate of rejection correlates with the level of PD7 expression.
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regulation of class i mhc expression in vivo function of Regulatory DNA Sequence elements in transgenic mice
Regulation of class I MHC expression: in vivo function of regulatory DNA sequence elements in transgenic mice., 1990Co-Authors: J E Maguire, W I Frels, R Ehrlich, Dinah S SingerAbstract:The class I MHC genes constitute a multigene family consisting of a set of highly homologous DNA Sequences (Kindt, Singer, 1987). Despite the relatedness of the class I genes, their products have been divided into three sub-families, based on their function, serological characteristics, and tissue distribution (Klein, 1975). One of these subfamilies, containing the classical class I genes, encodes transplantation antigens which are the primary restriction elements recognized in a cytolytic T cell response (Singer, Maguire, 1989). The other two families, containing the non-classical class I genes such as Qa and TL in the mouse, are less well functionally characterized, but are distinguished by the tissue distribution of their gene products (Singer, Maguire, 1989). Early serological studies of the transplantation antigens indicated that they are ubiquitously expressed, but that their level of expression varies among the tissues (Amos, Kostyu, 1980; Bodmer, 1981). Subsequent analyses of class I RNA levels with molecular probes has revealed that steady state levels of class I mRNA vary, suggesting that class I gene expression is transcriptionally regulated (Singer, Maguire, 1989; Fahrner, Hogan, Flavell, 1987; Ehrlich et al 1989).
Barbara J Jennings - One of the best experts on this subject based on the ideXlab platform.
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high resolution microarray analysis unravels complex xq28 aberrations in patients and carriers affected by x linked blue cone monochromacy
Clinical Genetics, 2016Co-Authors: Svetlana A Yatsenko, Barbara J Jennings, Heather A Bakos, Kathleen Vitullo, Marina Kedrov, Archana Kishore, Urvashi Surti, Michelle A Woodtrageser, Stephen Cercone, Alexander N YatsenkoAbstract:A loss-of-function of both the OPN1LW (red) and OPN1MW (green) cone opsin photopigment genes causes blue cone monochromacy (BCM; OMIM#303700), a rare X-linked, recessive disorder characterized by markedly reduced vision, severe photophobia, congenital nystagmus, and inability to discriminate colors. In humans, up to nine copies of the OPN1LW and OPN1MW genes are arranged in a 5′ −3′ orientation within Xq28, forming the cluster (1–3). The close physical location and high (99.8%) Sequence homology predispose this genomic region to non-allelic homologous recombination, which results in deletions, duplications, and the formation of OPN1LW/OPN1MW-hybrid genes (4–6). In the normal human retina, only the most proximal two genes in the cluster are expressed (2). Red or green expression in cone photoreceptors is accomplished by interaction of the gene promoter with a locus control region (LCR), a unique cis-Regulatory DNA Sequence located ~4 kb upstream of OPN1LW (7). In about 90% of males affected by BCM, Xq28 deletions or point mutations inactivating both OPN1LW and OPN1MW have been identified by polymerase chain reaction (PCR)-based molecular testing, while ~10% of patients have negative results and the molecular defects remain unknown (2, 6), precluding accurate information on disease progression in affected males and female carriers, carrier and prenatal testing, potential approaches, and efficiency of gene therapy. The Xq28 deletions may remove the LCR, inactivating both wild-type opsin genes, or extend into the opsin cluster (4, 6). The complex structure of the LCR and opsin genes, the presence of highly homologous Sequences, and variability within the opsin genomic region among human populations pose multiple challenges and limit the effectiveness of diagnostic and carrier testing in families with BCM. Microarray platforms are now used extensively for diagnosis and research to detect genomic imbalances contributing to human disease and population diversity (8, 9). High-resolution microarrays provide distinct benefits in studying males affected with X-linked disorders (9). Single gene alterations are more likely to be present in affected males; however, the resolution of clinical whole-genome microarray platforms, ranging from 25–200 kb, is often insufficient to detect smaller X-chromosome imbalances. We identified novel molecular alterations in three BCM families, using high-resolution X chromosome-targeted (X-HR) array comparative genomic hybridization (aCGH) and report the advantages and limitations of microarray analysis in the diagnosis of BCM and other X-linked conditions.
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High‐resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X‐linked blue cone monochromacy
Clinical Genetics, 2015Co-Authors: Svetlana A Yatsenko, Barbara J Jennings, Heather A Bakos, Kathleen Vitullo, Marina Kedrov, Archana Kishore, Urvashi Surti, Stephen Cercone, Michelle A. Wood-trageser, Alexander N YatsenkoAbstract:A loss-of-function of both the OPN1LW (red) and OPN1MW (green) cone opsin photopigment genes causes blue cone monochromacy (BCM; OMIM#303700), a rare X-linked, recessive disorder characterized by markedly reduced vision, severe photophobia, congenital nystagmus, and inability to discriminate colors. In humans, up to nine copies of the OPN1LW and OPN1MW genes are arranged in a 5′ −3′ orientation within Xq28, forming the cluster (1–3). The close physical location and high (99.8%) Sequence homology predispose this genomic region to non-allelic homologous recombination, which results in deletions, duplications, and the formation of OPN1LW/OPN1MW-hybrid genes (4–6). In the normal human retina, only the most proximal two genes in the cluster are expressed (2). Red or green expression in cone photoreceptors is accomplished by interaction of the gene promoter with a locus control region (LCR), a unique cis-Regulatory DNA Sequence located ~4 kb upstream of OPN1LW (7). In about 90% of males affected by BCM, Xq28 deletions or point mutations inactivating both OPN1LW and OPN1MW have been identified by polymerase chain reaction (PCR)-based molecular testing, while ~10% of patients have negative results and the molecular defects remain unknown (2, 6), precluding accurate information on disease progression in affected males and female carriers, carrier and prenatal testing, potential approaches, and efficiency of gene therapy. The Xq28 deletions may remove the LCR, inactivating both wild-type opsin genes, or extend into the opsin cluster (4, 6). The complex structure of the LCR and opsin genes, the presence of highly homologous Sequences, and variability within the opsin genomic region among human populations pose multiple challenges and limit the effectiveness of diagnostic and carrier testing in families with BCM. Microarray platforms are now used extensively for diagnosis and research to detect genomic imbalances contributing to human disease and population diversity (8, 9). High-resolution microarrays provide distinct benefits in studying males affected with X-linked disorders (9). Single gene alterations are more likely to be present in affected males; however, the resolution of clinical whole-genome microarray platforms, ranging from 25–200 kb, is often insufficient to detect smaller X-chromosome imbalances. We identified novel molecular alterations in three BCM families, using high-resolution X chromosome-targeted (X-HR) array comparative genomic hybridization (aCGH) and report the advantages and limitations of microarray analysis in the diagnosis of BCM and other X-linked conditions.
Stephen Cercone - One of the best experts on this subject based on the ideXlab platform.
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high resolution microarray analysis unravels complex xq28 aberrations in patients and carriers affected by x linked blue cone monochromacy
Clinical Genetics, 2016Co-Authors: Svetlana A Yatsenko, Barbara J Jennings, Heather A Bakos, Kathleen Vitullo, Marina Kedrov, Archana Kishore, Urvashi Surti, Michelle A Woodtrageser, Stephen Cercone, Alexander N YatsenkoAbstract:A loss-of-function of both the OPN1LW (red) and OPN1MW (green) cone opsin photopigment genes causes blue cone monochromacy (BCM; OMIM#303700), a rare X-linked, recessive disorder characterized by markedly reduced vision, severe photophobia, congenital nystagmus, and inability to discriminate colors. In humans, up to nine copies of the OPN1LW and OPN1MW genes are arranged in a 5′ −3′ orientation within Xq28, forming the cluster (1–3). The close physical location and high (99.8%) Sequence homology predispose this genomic region to non-allelic homologous recombination, which results in deletions, duplications, and the formation of OPN1LW/OPN1MW-hybrid genes (4–6). In the normal human retina, only the most proximal two genes in the cluster are expressed (2). Red or green expression in cone photoreceptors is accomplished by interaction of the gene promoter with a locus control region (LCR), a unique cis-Regulatory DNA Sequence located ~4 kb upstream of OPN1LW (7). In about 90% of males affected by BCM, Xq28 deletions or point mutations inactivating both OPN1LW and OPN1MW have been identified by polymerase chain reaction (PCR)-based molecular testing, while ~10% of patients have negative results and the molecular defects remain unknown (2, 6), precluding accurate information on disease progression in affected males and female carriers, carrier and prenatal testing, potential approaches, and efficiency of gene therapy. The Xq28 deletions may remove the LCR, inactivating both wild-type opsin genes, or extend into the opsin cluster (4, 6). The complex structure of the LCR and opsin genes, the presence of highly homologous Sequences, and variability within the opsin genomic region among human populations pose multiple challenges and limit the effectiveness of diagnostic and carrier testing in families with BCM. Microarray platforms are now used extensively for diagnosis and research to detect genomic imbalances contributing to human disease and population diversity (8, 9). High-resolution microarrays provide distinct benefits in studying males affected with X-linked disorders (9). Single gene alterations are more likely to be present in affected males; however, the resolution of clinical whole-genome microarray platforms, ranging from 25–200 kb, is often insufficient to detect smaller X-chromosome imbalances. We identified novel molecular alterations in three BCM families, using high-resolution X chromosome-targeted (X-HR) array comparative genomic hybridization (aCGH) and report the advantages and limitations of microarray analysis in the diagnosis of BCM and other X-linked conditions.
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High‐resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X‐linked blue cone monochromacy
Clinical Genetics, 2015Co-Authors: Svetlana A Yatsenko, Barbara J Jennings, Heather A Bakos, Kathleen Vitullo, Marina Kedrov, Archana Kishore, Urvashi Surti, Stephen Cercone, Michelle A. Wood-trageser, Alexander N YatsenkoAbstract:A loss-of-function of both the OPN1LW (red) and OPN1MW (green) cone opsin photopigment genes causes blue cone monochromacy (BCM; OMIM#303700), a rare X-linked, recessive disorder characterized by markedly reduced vision, severe photophobia, congenital nystagmus, and inability to discriminate colors. In humans, up to nine copies of the OPN1LW and OPN1MW genes are arranged in a 5′ −3′ orientation within Xq28, forming the cluster (1–3). The close physical location and high (99.8%) Sequence homology predispose this genomic region to non-allelic homologous recombination, which results in deletions, duplications, and the formation of OPN1LW/OPN1MW-hybrid genes (4–6). In the normal human retina, only the most proximal two genes in the cluster are expressed (2). Red or green expression in cone photoreceptors is accomplished by interaction of the gene promoter with a locus control region (LCR), a unique cis-Regulatory DNA Sequence located ~4 kb upstream of OPN1LW (7). In about 90% of males affected by BCM, Xq28 deletions or point mutations inactivating both OPN1LW and OPN1MW have been identified by polymerase chain reaction (PCR)-based molecular testing, while ~10% of patients have negative results and the molecular defects remain unknown (2, 6), precluding accurate information on disease progression in affected males and female carriers, carrier and prenatal testing, potential approaches, and efficiency of gene therapy. The Xq28 deletions may remove the LCR, inactivating both wild-type opsin genes, or extend into the opsin cluster (4, 6). The complex structure of the LCR and opsin genes, the presence of highly homologous Sequences, and variability within the opsin genomic region among human populations pose multiple challenges and limit the effectiveness of diagnostic and carrier testing in families with BCM. Microarray platforms are now used extensively for diagnosis and research to detect genomic imbalances contributing to human disease and population diversity (8, 9). High-resolution microarrays provide distinct benefits in studying males affected with X-linked disorders (9). Single gene alterations are more likely to be present in affected males; however, the resolution of clinical whole-genome microarray platforms, ranging from 25–200 kb, is often insufficient to detect smaller X-chromosome imbalances. We identified novel molecular alterations in three BCM families, using high-resolution X chromosome-targeted (X-HR) array comparative genomic hybridization (aCGH) and report the advantages and limitations of microarray analysis in the diagnosis of BCM and other X-linked conditions.