Mechanisms for human genomic rearrangements (2008)
Gu, Wenli, Zhang, Feng, Lupski, James R
Abstract Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such...
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)
Adrian Gherman, Peter E. Chen, Tanya M. Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S. Kashuk, ...
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)
Adrian Gherman, Peter E. Chen, Tanya Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, ...
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance between selective advantage, selective disadvantage and genetic drift. When...
Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes (2005)
James R. Lupski, Pawel Stankiewicz
Rearrangements of our genome can be responsible for inherited as well as sporadic traits. The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 (17p) reveal nonallelic...
Abstract Homologous recombination between alleles or non-allelic paralogous sequences does not occur uniformly but is concentrated in 'hotspots' with high recombination rates. Recent studies of these...
Midro,Alina T., Panasiuk,Barbara, Tümer,Zeynep, Stankiewicz,Pawel, Silahtaroglu,Asli, Lupski,James R., ...
The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of...
Barbouti, Aikaterini, Stankiewicz, Pawel, Nusbaum, Chad, Cuomo, Christina, Cook, April, Höglund, Mattias, ...
Abstract is not available
Animal models for human contiguous gene syndromes and other genomic disorders (2004)
Walz,Katherina, Fonseca,Patricia, Lupski,James R.
Genomic disorders refer to a group of syndromes caused by DNA rearrangements, such as deletions and duplications, which result in an alteration of normal gene dosage. The chromosomal rearrangements...
Midro, Alina T., Panasiuk, Barbara, Tümer, Zeynep, Stankiewicz, Pawel, Silahtaroglu, Asli, Lupski, James R., ...
The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of...
Campbell, Hugh D., Fountain, Shelley, McLennan, Ian S., Berven, Leise A., Crouch, Michael Francis, Davy, Deborah A., ...
The Drosophila melanogaster flightless I gene is required for normal cellularization of the syncytial blastoderm. Highly conserved homologues of flightless I are present in Caenorhabditis elegans,...
Campbell, Hugh D., Fountain, Shelley, McLennan, Ian S., Berven, Leise A., Crouch, Michael Francis, Davy, Deborah A., ...
The Drosophila melanogaster flightless I gene is required for normal cellularization of the syncytial blastoderm. Highly conserved homologues of flightless I are present in Caenorhabditis elegans,...
Typescript.
Shlush, Liran I., Behar, Doron M., Zelazny, Adrian, Keller, Nathy, Lupski, James R., Beaudet, Arthur L., ...
A serogroup C meningococcal outbreak that occurred in an Israeli Arab village led to a massive vaccination campaign. During the subsequent 18 months, new cases of type B Neisseria meningitidis...
Fliih, a Gelsolin-Related Cytoskeletal Regulator Essential for Early Mammalian Embryonic Development
Campbell, Hugh D., Fountain, Shelley, McLennan, Ian S., Berven, Leise A., Crouch, Michael F., Davy, Deborah A., ...
The Drosophila melanogaster flightless I gene is required for normal cellularization of the syncytial blastoderm. Highly conserved homologues of flightless I are present in Caenorhabditis elegans,...
Katsanis, Nicholas, Worley, Kim C., Gonzalez, Guillermo, Ansley, Stephen J., Lupski, James R.
Grouping genes by virtue of their sequence similarity, functional association, or spatiotemporal distribution is an important first step in investigating function. Given the recent identification of...
Walz, Katherina, Caratini-Rivera, Sandra, Bi, Weimin, Fonseca, Patricia, Mansouri, Dena L., Lynch, Jennifer, ...
Contiguous gene syndromes (CGS) are a group of disorders associated with chromosomal rearrangements of which the phenotype is thought to result from altered copy numbers of physically linked...
Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., ...
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb...
Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs
Park, Sung-Sup, Stankiewicz, Paweł, Bi, Weimin, Shaw, Christine, Lehoczky, Jessica, Dewar, Ken, ...
An ∼4-Mb genomic segment on chromosome 17p11.2, commonly deleted in patients with the Smith-Magenis syndrome (SMS) and duplicated in patients with dup(17)(p11.2p11.2) syndrome, is flanked by large,...
Yan, Jiong, Walz, Katherina, Nakamura, Hisashi, Carattini-Rivera, Sandra, Zhao, Qi, Vogel, Hannes, ...
Csn3 (Cops3) maps to the mouse chromosome 11 region syntenic to the common deletion interval for the Smith-Magenis syndrome, a contiguous gene deletion syndrome. It encodes the third subunit of an...
Localization of mariner DNA Transposons in the Human Genome by PRINS
Reiter, Lawrence T., Liehr, Thomas, Rautenstrauss, Bernd, Robertson, Hugh M., Lupski, James R.
Homologous recombination occurring among misaligned repeated sequences is a significant source of the molecular rearrangements resulting in human genetic disease. Studies of the Charcot-Marie-Tooth...
Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., ...
Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A–REPs) represent frequent genomic rearrangements resulting in two common...
Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.
Many genomic disorders occur as a result of chromosome rearrangements involving low-copy repeats (LCRs). To better understand the molecular basis of chromosome rearrangements, including...
Two MspI RFLPs at the D17S258 locus
Franco, Brunella, Rincon-Limas, Diego, Nakamura, Yusuke, Patel, Pragna I., Lupski, James R.
Serial segmental duplications during primate evolution result in complex human genome architecture
Stankiewicz, Paweł, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.
The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...
Microbial DNA Typing by Automated Repetitive-Sequence-Based PCR
Healy, Mimi, Huong, Joe, Bittner, Traci, Lising, Maricel, Frye, Stacie, Raza, Sabeen, ...
Repetitive sequence-based PCR (rep-PCR) has been recognized as an effective method for bacterial strain typing. Recently, rep-PCR has been commercially adapted to an automated format known as the...
Hotspots of homologous recombination in the human genome: not all homologous sequences are equal
Recent studies of homologous recombination hotspots show that they do not share common sequence motifs, but they do have other features in common.
Zhou, Tong, Lee, Jae Wan, Tatavarthi, Haritha, Lupski, James R., Valerie, Kristoffer, Povirk, Lawrence F.
Tyrosyl-DNA phosphodiesterase (TDP1) is a DNA repair enzyme that removes peptide fragments linked through tyrosine to the 3′ end of DNA, and can also remove 3′-phosphoglycolates (PGs) formed by...
Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy
Boerkoel, Cornelius F., Takashima, Hiroshi, Stankiewicz, Pawel, Garcia, Carlos A., Leber, Steven M., Rhee-Morris, Laila, ...
The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx−/− mice develop a severe demyelinating peripheral...
Beales, Philip L., Katsanis, Nicholas, Lewis, Richard A., Ansley, Stephen J., Elcioglu, Nursel, Raza, Jamal, ...
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by obesity, polydactyly, retinal dystrophy, and renal disease. The significant genetic and clinical...
Katsanis, Nicholas, Lewis, Richard A., Stockton, David W., Mai, Phuong M. T., Baird, Lisa, Beales, Philip L., ...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation....
Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes
Lupski, James R, Stankiewicz, Pawel
Rearrangements of our genome can be responsible for inherited as well as sporadic traits. The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 (17p) reveal nonallelic...
Khajavi, Mehrdad, Inoue, Ken, Wiszniewski, Wojciech, Ohyama, Tomoko, Snipes, G. Jackson, Lupski, James R.
Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein constituent of peripheral myelin, can cause the adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well...
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)
Walz, Katherina, Paylor, Richard, Yan, Jiong, Bi, Weimin, Lupski, James R.
Genomic disorders are conditions that result from DNA rearrangements, such as deletions or duplications. The identification of the dosage-sensitive gene(s) within the rearranged genomic interval is...
Shlush, Liran I., Behar, Doron M., Zelazny, Adrian, Keller, Nathy, Lupski, James R., Beaudet, Arthur L., ...
A serogroup C meningococcal outbreak that occurred in an Israeli Arab village led to a massive vaccination campaign. During the subsequent 18 months, new cases of type B Neisseria meningitidis...
Fliih, a Gelsolin-Related Cytoskeletal Regulator Essential for Early Mammalian Embryonic Development
Campbell, Hugh D., Fountain, Shelley, McLennan, Ian S., Berven, Leise A., Crouch, Michael F., Davy, Deborah A., ...
The Drosophila melanogaster flightless I gene is required for normal cellularization of the syncytial blastoderm. Highly conserved homologues of flightless I are present in Caenorhabditis elegans,...
Katsanis, Nicholas, Worley, Kim C., Gonzalez, Guillermo, Ansley, Stephen J., Lupski, James R.
Grouping genes by virtue of their sequence similarity, functional association, or spatiotemporal distribution is an important first step in investigating function. Given the recent identification of...
Walz, Katherina, Caratini-Rivera, Sandra, Bi, Weimin, Fonseca, Patricia, Mansouri, Dena L., Lynch, Jennifer, ...
Contiguous gene syndromes (CGS) are a group of disorders associated with chromosomal rearrangements of which the phenotype is thought to result from altered copy numbers of physically linked...
Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., ...
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb...
Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs
Park, Sung-Sup, Stankiewicz, Paweł, Bi, Weimin, Shaw, Christine, Lehoczky, Jessica, Dewar, Ken, ...
An ∼4-Mb genomic segment on chromosome 17p11.2, commonly deleted in patients with the Smith-Magenis syndrome (SMS) and duplicated in patients with dup(17)(p11.2p11.2) syndrome, is flanked by large,...
Yan, Jiong, Walz, Katherina, Nakamura, Hisashi, Carattini-Rivera, Sandra, Zhao, Qi, Vogel, Hannes, ...
Csn3 (Cops3) maps to the mouse chromosome 11 region syntenic to the common deletion interval for the Smith-Magenis syndrome, a contiguous gene deletion syndrome. It encodes the third subunit of an...
Localization of mariner DNA Transposons in the Human Genome by PRINS
Reiter, Lawrence T., Liehr, Thomas, Rautenstrauss, Bernd, Robertson, Hugh M., Lupski, James R.
Homologous recombination occurring among misaligned repeated sequences is a significant source of the molecular rearrangements resulting in human genetic disease. Studies of the Charcot-Marie-Tooth...
Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., ...
Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A–REPs) represent frequent genomic rearrangements resulting in two common...
Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.
Many genomic disorders occur as a result of chromosome rearrangements involving low-copy repeats (LCRs). To better understand the molecular basis of chromosome rearrangements, including...
Two MspI RFLPs at the D17S258 locus
Franco, Brunella, Rincon-Limas, Diego, Nakamura, Yusuke, Patel, Pragna I., Lupski, James R.
Inoue, Ken, Osaka, Hitoshi, Thurston, Virginia C., Clarke, Joe T. R., Yoneyama, Akira, Rosenbarker, Lisa, ...
In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is infrequent. Genomic mechanisms for these...
Eichers, Erica R., Green, Jane S., Stockton, David W., Jackman, Christopher S., Whelan, James, McNamara, J. Arch, ...
Some isolated populations exhibit an increased prevalence of rare recessive diseases. The island of Newfoundland is a characteristic geographic isolate, settled by a small number of families...
Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., ...
Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an...
Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2
Shaw, Christine J., Bi, Weimin, Lupski, James R.
A number of common contiguous gene syndromes have been shown to result from nonallelic homologous recombination (NAHR) within region-specific low-copy repeats (LCRs). The reciprocal duplications are...
Serial segmental duplications during primate evolution result in complex human genome architecture
Stankiewicz, Paweł, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.
The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...
Microbial DNA Typing by Automated Repetitive-Sequence-Based PCR
Healy, Mimi, Huong, Joe, Bittner, Traci, Lising, Maricel, Frye, Stacie, Raza, Sabeen, ...
Repetitive sequence-based PCR (rep-PCR) has been recognized as an effective method for bacterial strain typing. Recently, rep-PCR has been commercially adapted to an automated format known as the...
Hotspots of homologous recombination in the human genome: not all homologous sequences are equal
Recent studies of homologous recombination hotspots show that they do not share common sequence motifs, but they do have other features in common.
Zhou, Tong, Lee, Jae Wan, Tatavarthi, Haritha, Lupski, James R., Valerie, Kristoffer, Povirk, Lawrence F.
Tyrosyl-DNA phosphodiesterase (TDP1) is a DNA repair enzyme that removes peptide fragments linked through tyrosine to the 3′ end of DNA, and can also remove 3′-phosphoglycolates (PGs) formed by...
Badano, José L., Ansley, Stephen J., Leitch, Carmen C., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder, the primary features of which include obesity, retinal dystrophy, polydactyly, hypogenitalism, learning difficulties, and renal...
Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements
Stankiewicz, Paweł, Shaw, Christine J., Dapper, Jason D., Wakui, Keiko, Shaffer, Lisa G., Withers, Marjorie, ...
To investigate the potential involvement of genome architecture in nonrecurrent chromosome rearrangements, we analyzed the breakpoints of eight translocations and 18 unusual-sized deletions involving...
Beales, Philip L., Badano, Jose L., Ross, Alison J., Ansley, Stephen J., Hoskins, Bethan E., Kirsten, Brigitta, ...
Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1–7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7)....
Bi, Weimin, Park, Sung-Sup, Shaw, Christine J., Withers, Marjorie A., Patel, Pragna I., Lupski, James R.
Smith-Magenis syndrome (SMS) is caused by an ∼4-Mb heterozygous interstitial deletion on chromosome 17p11.2 in ∼80%–90% of affected patients. Three large (∼200 kb), complex, and highly...
Barbouti, Aikaterini, Stankiewicz, Pawel, Nusbaum, Chad, Cuomo, Christina, Cook, April, Höglund, Mattias, ...
Although a great deal of information has accumulated regarding the mechanisms underlying constitutional DNA rearrangements associated with inherited disorders, virtually nothing is known about the...
Shaw, Christine J., Withers, Marjorie A., Lupski, James R.
Several homologous recombination “hotspots,” or sites of positional preference for strand exchanges, associated with recurrent deletions and duplications have been reported within large low-copy...
Velagaleti, Gopalrao V. N., Bien-Willner, Gabriel A., Northup, Jill K., Lockhart, Lillian H., Hawkins, Judy C., Jalal, Syed M., ...
Campomelic dysplasia (CD) is a semilethal skeletal malformation syndrome with or without XY sex reversal. In addition to the multiple mutations found within the sex-determining region Y–related...
Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy
Boerkoel, Cornelius F., Takashima, Hiroshi, Stankiewicz, Pawel, Garcia, Carlos A., Leber, Steven M., Rhee-Morris, Laila, ...
The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx−/− mice develop a severe demyelinating peripheral...