Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome

1997 ◽  
Vol 100 (3-4) ◽  
pp. 426-430 ◽  
Author(s):  
D.-U. Kloos ◽  
S. Jakubiczka ◽  
T. Wienker ◽  
G. Wolff ◽  
P. Wieacker
2019 ◽  
Author(s):  
Ryan Bracewell ◽  
Anita Tran ◽  
Kamalakar Chatla ◽  
Doris Bachtrog

ABSTRACTThe Drosophila obscura species group is one of the most studied clades of Drosophila and harbors multiple distinct karyotypes. Here we present a de novo genome assembly and annotation of D. bifasciata, a species which represents an important subgroup for which no high-quality chromosome-level genome assembly currently exists. We combined long-read sequencing (Nanopore) and Hi-C scaffolding to achieve a highly contiguous genome assembly approximately 193Mb in size, with repetitive elements constituting 30.1% of the total length. Drosophila bifasciata harbors four large metacentric chromosomes and the small dot, and our assembly contains each chromosome in a single scaffold, including the highly repetitive pericentromere, which were largely composed of Jockey and Gypsy transposable elements. We annotated a total of 12,821 protein-coding genes and comparisons of synteny with D. athabasca orthologs show that the large metacentric pericentromeric regions of multiple chromosomes are conserved between these species. Importantly, Muller A (X chromosome) was found to be metacentric in D. bifasciata and the pericentromeric region appears homologous to the pericentromeric region of the fused Muller A-AD (XL and XR) of pseudoobscura/affinis subgroup species. Our finding suggests a metacentric ancestral X fused to a telocentric Muller D and created the large neo-X (Muller A-AD) chromosome ∼15 MYA. We also confirm the fusion of Muller C and D in D. bifasciata and show that it likely involved a centromere-centromere fusion.


Genomics ◽  
1988 ◽  
Vol 2 (4) ◽  
pp. 294-301 ◽  
Author(s):  
Melanie M. Mahtani ◽  
Huntington F. Willard

2020 ◽  
Vol 10 (3) ◽  
pp. 891-897 ◽  
Author(s):  
Ryan Bracewell ◽  
Anita Tran ◽  
Kamalakar Chatla ◽  
Doris Bachtrog

The Drosophila obscura species group is one of the most studied clades of Drosophila and harbors multiple distinct karyotypes. Here we present a de novo genome assembly and annotation of D. bifasciata, a species which represents an important subgroup for which no high-quality chromosome-level genome assembly currently exists. We combined long-read sequencing (Nanopore) and Hi-C scaffolding to achieve a highly contiguous genome assembly approximately 193 Mb in size, with repetitive elements constituting 30.1% of the total length. Drosophila bifasciata harbors four large metacentric chromosomes and the small dot, and our assembly contains each chromosome in a single scaffold, including the highly repetitive pericentromeres, which were largely composed of Jockey and Gypsy transposable elements. We annotated a total of 12,821 protein-coding genes and comparisons of synteny with D. athabasca orthologs show that the large metacentric pericentromeric regions of multiple chromosomes are conserved between these species. Importantly, Muller A (X chromosome) was found to be metacentric in D. bifasciata and the pericentromeric region appears homologous to the pericentromeric region of the fused Muller A-AD (XL and XR) of pseudoobscura/affinis subgroup species. Our finding suggests a metacentric ancestral X fused to a telocentric Muller D and created the large neo-X (Muller A-AD) chromosome ∼15 MYA. We also confirm the fusion of Muller C and D in D. bifasciata and show that it likely involved a centromere-centromere fusion.


Genomics ◽  
1993 ◽  
Vol 18 (2) ◽  
pp. 290-294 ◽  
Author(s):  
Patrick Willems ◽  
Lieve Vits ◽  
Inge Buntinx ◽  
Peter Raeymaekers ◽  
Christine Van Broeckhoven ◽  
...  

Author(s):  
Lynn E. DeLisi ◽  
Nigel Wellman ◽  
John Stewart ◽  
Angela B. Smith ◽  
Mike Churchman ◽  
...  

1994 ◽  
Vol 52 (3) ◽  
pp. 339-345 ◽  
Author(s):  
Roger E. Stevenson ◽  
Melanie May ◽  
J. Fernando Arena ◽  
Edward A. Millar ◽  
Charles I. Scott ◽  
...  

1991 ◽  
Vol 29 (2) ◽  
pp. 124-131 ◽  
Author(s):  
Kirk C. Wilhelmsen ◽  
Daniel E. Weeks ◽  
Torbjoern G. Nygaard ◽  
Carol B. Moskowitz ◽  
Raymond L. Rosales ◽  
...  

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