Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28

Genomics

Volumn 79, Issue 1, 2002, Pages 31-40

  Aradhya, Swaroop ^a,d   Woffendin, Hayley ^a,b   Bonnen, Penelope ^a   Heiss, Nina S ^a   Yamagata, Takanori ^a   Esposito, Teresa ^a   Bardaro, Tiziana ^a   Poustka, Annemarie ^a,c   D'Urso, Michele ^a   Kenwrick, Sue ^a   Nelson, David L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

BAC and PAC contig; Great ape evolution; int22h; Mouse synteny; Phylogenetic; Single nucleotide polymorphism; XAP135 pseudogene

Indexed keywords

CONTIG;

ANIMAL CELL; APE; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CENTROMERE; CHIMPANZEE; CHROMOSOME REARRANGEMENT; CHROMOSOME XQ; CONSENSUS SEQUENCE; CONSERVATION GENETICS; CONTIG MAPPING; EVOLUTION; EVOLUTIONARY ADAPTATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC DISORDER; GORILLA; HAPLOTYPE; HUMAN; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PARSIMONY ANALYSIS; PEDIGREE; PHYLOGENETIC TREE; PHYLOGENY; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYNTENY; X CHROMOSOME;

ALOCASIA MACRORRHIZOS; ANIMALIA; BACTERIA (MICROORGANISMS); PAN TROGLODYTES;

EID: 0035703060     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2001.6680     Document Type: Article

References (57)

1. YAC contig organization and CpG island analysis in Xq28
2. A YAC clone map spanning 7.5 megabases of human chromosome band Xq28
3. Transcriptional organization of a 450-kb region of the human X chromosome in Xq28
4. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28
5. Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection
6. Long-range sequence analysis in Xq28: Thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci
7. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
8. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
9. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
10. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
11. The gene for incontinentia pigmenti is assigned to Xq28
12. Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers
13. Linkage analysis in 16 families with incontinentia pigmenti
14. Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: Localization to Xq27.3-qter
15. Familial skewed X inactivation: A molecular trait associated with high spontaneous-abortion rate maps to Xq28
16. Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: Analysis of the X-inactivation patterns
17. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28
18. X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28
19. X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: Linkage study and neuropsychological data in a large family
20. Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype
21. A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28
22. A gene for dominant nonspecific X-linked mental retardation is located in Xq28
23. A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28
24. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28
25. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28
26. Isolation of full-length cDNA and chromosomal localization of human NF-κB modulator NEMO to Xq28
27. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
28. Structure of chromosomal duplicons and their role in mediating human genomic disorders
29. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
30. X-linked genetic homologies between mouse and man
31. Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: Implications for mapping human disorders in Xq28
32. A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28
33. Comparative genome sequence analysis of the Bpa/Str region in mouse and man
34. Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
35. Expression of the von Hippel-Lindau-binding protein-1 (Vbp1) in fetal and adult mouse tissues
36. Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2
37. Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von Hippel-Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2
38. A maximum likelihood approach to the detection of selection from a phylogeny
39. Identification of a TXREB pseudogene (TXREBP) located between the genes for p55 (MPP1) and G6PD on Xq28
40. The human S-adenosylmethionine decarboxylase gene: Nucleotide sequence of a pseudogene and chromosomal localization of the active gene (AMD1) and the pseudogene (AMD2)
41. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus
42. A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus
43. Molecular mechanisms for CMT1A duplication and HNPP deletion
44. Multiple pathogenic and benign rearrangements occur at a 35-kb duplication involving the NEMO and LAGE2 genes
45. Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region
46. The origin and evolution of the pseudoautosomal regions of human sex chromosomes
47. The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes
48. Nonuniform recombination within the human β-globin gene cluster
49. Meiotic recombination hotspots
50. Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1
51. Molecular mechanisms for constitutional chromosomal rearrangements in humans
52. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
53. A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations
54. Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations
55. A robotics-assisted procedure for large scale cystic fibrosis mutation analysis
56. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes