The Experts below are selected from a list of 297 Experts worldwide ranked by ideXlab platform
Melissa A Toups - One of the best experts on this subject based on the ideXlab platform.
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A Reciprocal Translocation radically reshapes sex‐linked inheritance in the common frog
Molecular Ecology, 2019Co-Authors: Melissa A Toups, Nicolas Rodrigues, Nicolas Perrin, Mark KirkpatrickAbstract:X and Y chromosomes can diverge when rearrangements block recombination between them. Here we present the first genomic view of a Reciprocal Translocation that causes two physically unconnected pairs of chromosomes to be coinherited as sex chromosomes. In a population of the common frog (Rana temporaria), both pairs of X and Y chromosomes show extensive sequence differentiation, but not degeneration of the Y chromosomes. A new method based on gene trees shows both chromosomes are sex‐linked. Furthermore, the gene trees from the two Y chromosomes have identical topologies, showing they have been coinherited since the Reciprocal Translocation occurred. Reciprocal Translocations can thus reshape sex linkage on a much greater scale compared with inversions, the type of rearrangement that is much better known in sex chromosome evolution, and they can greatly amplify the power of sexually antagonistic selection to drive genomic rearrangement. Two more populations show evidence of other rearrangements, suggesting that this species has unprecedented structural polymorphism in its sex chromosomes.
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a Reciprocal Translocation radically reshapes sex linked inheritance in the common frog
Molecular Ecology, 2019Co-Authors: Melissa A Toups, Nicolas Rodrigues, Nicolas Perrin, Mark KirkpatrickAbstract:X and Y chromosomes can diverge when rearrangements block recombination between them. Here we present the first genomic view of a Reciprocal Translocation that causes two physically unconnected pairs of chromosomes to be coinherited as sex chromosomes. In a population of the common frog (Rana temporaria), both pairs of X and Y chromosomes show extensive sequence differentiation, but not degeneration of the Y chromosomes. A new method based on gene trees shows both chromosomes are sex‐linked. Furthermore, the gene trees from the two Y chromosomes have identical topologies, showing they have been coinherited since the Reciprocal Translocation occurred. Reciprocal Translocations can thus reshape sex linkage on a much greater scale compared with inversions, the type of rearrangement that is much better known in sex chromosome evolution, and they can greatly amplify the power of sexually antagonistic selection to drive genomic rearrangement. Two more populations show evidence of other rearrangements, suggesting that this species has unprecedented structural polymorphism in its sex chromosomes.
Yoshikazu Kuroki - One of the best experts on this subject based on the ideXlab platform.
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sotos syndrome associated with a de novo balanced Reciprocal Translocation t 5 8 q35 q24 1
American Journal of Medical Genetics, 2002Co-Authors: Kiyoshi Imaizumi, Mitsuo Masuno, Junko Kimura, Mari Matsuo, Kenji Kurosawa, Norio Niikawa, Yoshikazu KurokiAbstract:We describe a de novo balanced Reciprocal Translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15-month-old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291–293]) as one of Translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long-arm region of chromosome 5. © 2001 Wiley-Liss, Inc.
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congenital scoliosis hemivertebra associated with de novo balanced Reciprocal Translocation 46 xx t 13 17 q34 p11 2
American Journal of Medical Genetics, 1997Co-Authors: Kiyoshi Imaizumi, Mitsuo Masuno, Yoshikazu Kuroki, Takuma Ishii, Nariharu Okuzumi, Yusuke NakamuraAbstract:We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo Reciprocal Translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and hemivertebra is the most common anomaly causing congenital scoliosis. The cause and the mode of inheritance of hemivertebrae are unknown. Our patient has a de novo balanced chromosome aberration and retains two copies of the LLGL gene, which is usually lacking in patients with Smith-Magenis syndrome (SMS). Since some SMS patients who showed a deletion at 17p11.2 had congenital scoliosis, it is likely that one (17p11.2) of the breakpoints in our patient is a candidate region for a hemivertebra locus. Am. J. Med. Genet. 73:244–246, 1997. © 1997 Wiley-Liss, Inc.
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Rieger syndrome with de novo Reciprocal Translocation t(1;4) (q23.1;q25)
American Journal of Medical Genetics, 1995Co-Authors: Yoshio Makita, Mitsuo Masuno, Kiyoshi Imaizumi, Sumimasa Yamashita, Shizuko Ohba, Yoshikazu KurokiAbstract:We report on a boy with Rieger syndrome, who had an apparently balanced Reciprocal Translocation between chromosomes 1 and 4. The clinical manifestations of this patient were characterized by irregular shaped pupils with a prominent Schwalbe line and an umbilical hernia. On cytogenetic studies, he was found to have a de novo Reciprocal Translocation 46,XY,t(1;4) (q23.1;q25), without visible deletion. His parents had normal chromosomes. A review of both cytogenetic and genetic linkage analyses with Rieger syndrome showed that chromosome 4q was involved. This and other previous reports suggested that the gene for Rieger syndrome is mapped to the 4q25{r_arrow}4q26 segment adjoining the breakpoint. 14 refs., 3 figs., 1 tab.
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rubinstein taybi syndrome with de novo Reciprocal Translocation t 2 16 p13 3 p13 3
American Journal of Medical Genetics, 1991Co-Authors: Kiyoshi Imaizumi, Yoshikazu KurokiAbstract:We describe a girl with typical Rubinstein-Taybi syndrome with apparently balanced Reciprocal Translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a Reciprocal Translocation without visible deletion, karyotype: 46, XX, t(2;16) (p13.3; p13.3). Her parents had normal chromosomes. These results suggest that the locus of the gene for the Rubinstein-Taybi syndrome may be situated at 2p13.3 or 16p13.3.
Mark Kirkpatrick - One of the best experts on this subject based on the ideXlab platform.
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A Reciprocal Translocation radically reshapes sex‐linked inheritance in the common frog
Molecular Ecology, 2019Co-Authors: Melissa A Toups, Nicolas Rodrigues, Nicolas Perrin, Mark KirkpatrickAbstract:X and Y chromosomes can diverge when rearrangements block recombination between them. Here we present the first genomic view of a Reciprocal Translocation that causes two physically unconnected pairs of chromosomes to be coinherited as sex chromosomes. In a population of the common frog (Rana temporaria), both pairs of X and Y chromosomes show extensive sequence differentiation, but not degeneration of the Y chromosomes. A new method based on gene trees shows both chromosomes are sex‐linked. Furthermore, the gene trees from the two Y chromosomes have identical topologies, showing they have been coinherited since the Reciprocal Translocation occurred. Reciprocal Translocations can thus reshape sex linkage on a much greater scale compared with inversions, the type of rearrangement that is much better known in sex chromosome evolution, and they can greatly amplify the power of sexually antagonistic selection to drive genomic rearrangement. Two more populations show evidence of other rearrangements, suggesting that this species has unprecedented structural polymorphism in its sex chromosomes.
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a Reciprocal Translocation radically reshapes sex linked inheritance in the common frog
Molecular Ecology, 2019Co-Authors: Melissa A Toups, Nicolas Rodrigues, Nicolas Perrin, Mark KirkpatrickAbstract:X and Y chromosomes can diverge when rearrangements block recombination between them. Here we present the first genomic view of a Reciprocal Translocation that causes two physically unconnected pairs of chromosomes to be coinherited as sex chromosomes. In a population of the common frog (Rana temporaria), both pairs of X and Y chromosomes show extensive sequence differentiation, but not degeneration of the Y chromosomes. A new method based on gene trees shows both chromosomes are sex‐linked. Furthermore, the gene trees from the two Y chromosomes have identical topologies, showing they have been coinherited since the Reciprocal Translocation occurred. Reciprocal Translocations can thus reshape sex linkage on a much greater scale compared with inversions, the type of rearrangement that is much better known in sex chromosome evolution, and they can greatly amplify the power of sexually antagonistic selection to drive genomic rearrangement. Two more populations show evidence of other rearrangements, suggesting that this species has unprecedented structural polymorphism in its sex chromosomes.
Kiyoshi Imaizumi - One of the best experts on this subject based on the ideXlab platform.
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sotos syndrome associated with a de novo balanced Reciprocal Translocation t 5 8 q35 q24 1
American Journal of Medical Genetics, 2002Co-Authors: Kiyoshi Imaizumi, Mitsuo Masuno, Junko Kimura, Mari Matsuo, Kenji Kurosawa, Norio Niikawa, Yoshikazu KurokiAbstract:We describe a de novo balanced Reciprocal Translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15-month-old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291–293]) as one of Translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long-arm region of chromosome 5. © 2001 Wiley-Liss, Inc.
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congenital scoliosis hemivertebra associated with de novo balanced Reciprocal Translocation 46 xx t 13 17 q34 p11 2
American Journal of Medical Genetics, 1997Co-Authors: Kiyoshi Imaizumi, Mitsuo Masuno, Yoshikazu Kuroki, Takuma Ishii, Nariharu Okuzumi, Yusuke NakamuraAbstract:We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo Reciprocal Translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and hemivertebra is the most common anomaly causing congenital scoliosis. The cause and the mode of inheritance of hemivertebrae are unknown. Our patient has a de novo balanced chromosome aberration and retains two copies of the LLGL gene, which is usually lacking in patients with Smith-Magenis syndrome (SMS). Since some SMS patients who showed a deletion at 17p11.2 had congenital scoliosis, it is likely that one (17p11.2) of the breakpoints in our patient is a candidate region for a hemivertebra locus. Am. J. Med. Genet. 73:244–246, 1997. © 1997 Wiley-Liss, Inc.
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Rieger syndrome with de novo Reciprocal Translocation t(1;4) (q23.1;q25)
American Journal of Medical Genetics, 1995Co-Authors: Yoshio Makita, Mitsuo Masuno, Kiyoshi Imaizumi, Sumimasa Yamashita, Shizuko Ohba, Yoshikazu KurokiAbstract:We report on a boy with Rieger syndrome, who had an apparently balanced Reciprocal Translocation between chromosomes 1 and 4. The clinical manifestations of this patient were characterized by irregular shaped pupils with a prominent Schwalbe line and an umbilical hernia. On cytogenetic studies, he was found to have a de novo Reciprocal Translocation 46,XY,t(1;4) (q23.1;q25), without visible deletion. His parents had normal chromosomes. A review of both cytogenetic and genetic linkage analyses with Rieger syndrome showed that chromosome 4q was involved. This and other previous reports suggested that the gene for Rieger syndrome is mapped to the 4q25{r_arrow}4q26 segment adjoining the breakpoint. 14 refs., 3 figs., 1 tab.
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rubinstein taybi syndrome with de novo Reciprocal Translocation t 2 16 p13 3 p13 3
American Journal of Medical Genetics, 1991Co-Authors: Kiyoshi Imaizumi, Yoshikazu KurokiAbstract:We describe a girl with typical Rubinstein-Taybi syndrome with apparently balanced Reciprocal Translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a Reciprocal Translocation without visible deletion, karyotype: 46, XX, t(2;16) (p13.3; p13.3). Her parents had normal chromosomes. These results suggest that the locus of the gene for the Rubinstein-Taybi syndrome may be situated at 2p13.3 or 16p13.3.
Arvid Heiberg - One of the best experts on this subject based on the ideXlab platform.
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tentative assignment of a locus for rubinstein taybi syndrome to 16p13 3 by a de novo Reciprocal Translocation t 7 16 q34 p13 3
American Journal of Medical Genetics, 1992Co-Authors: Niels Tommerup, Carl Birger Van Der Hagen, Arvid HeibergAbstract:During a systematic chromosomal survey of 7 unrelated patients with Rubinstein-Taybisyndrome, an apparently balanced de novo Reciprocal Translocation, t(7;16)(q34;p13.3), was detected in an affected boy. The involvement of the region 16p13.3 coincides with the position of one of the breakpoints in another de novo Reciprocal Translocation associated with Rubinstein-Taybi syndrome, suggesting that a locus for this syndrome maps to 16p13.3. © 1992 Wiley-Liss, Inc.