Human genetic disorders, a phylogenetic perspective

Journal of Molecular Biology

Volumn 308, Issue 4, 2001, Pages 587-596

  Martinez, Joybelle ^a   Dugaiczyk, Lars J ^a   Zielinski, Rita ^a   Dugaiczyk, Achilles ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Alu spreading; Genetic predisposition; HPRT; Negative selection; Phylogenetic roots

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LIPOPROTEIN LIPASE; REPETITIVE DNA;

ARTICLE; BEHAVIOR; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; HUMAN; NONHUMAN; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PHYLOGENY; PRIMATE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

PAN TROGLODYTES; PRIMATES;

EID: 0034977199     PISSN: 00222836     EISSN: None     Source Type: Journal    
DOI: 10.1006/jmbi.2001.4755     Document Type: Article

References (53)

1. A de novo Alu insertion results in neurofibromatosis type 1
2. Inactivation of the cholinesterase gene by Alu insertion: Possible mechanism for human gene transcription
3. Haemophilia B due to de novo insertion of a human specific Alu subfamily member within the coding region of the Factor IX gene
4. An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily
5. 2+-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
6. Mutational analysis in the BRCA2 gene in primary breast cancers
7. X-linked immunodeficiency caused by insertion of Alu repeat sequences
8. De novo Alu-element insertion in FGFR2 identify a distinct pathological basis for Apert syndrome
9. Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution
10. A transpositionally and transcriptionally competent Alu subfamily
11. Evolution of the master Alu gene(s)
12. A human-specific subfamily of Alu sequences
13. Phylogenetic evidence for multiple Alu source genes
14. Mobility of short interspersed repeats within the chimpanzee lineage
15. Alu: Structure, origin, evolution, significance, and function of one-tenth of human DNA
16. Origin and phylogenetic distribution of Alu DNA repeats: Irreversible events in the evolution of primates
17. Structure of the human lipoprotein lipase gene
18. Organization of the human lipoprotein lipase gene and evolution of the lipase gene family
19. A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency
20. Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency
21. Familial hypercholesterolemia
22. Familial lipoprotein deficiency
23. Structure of the human apolipoprotein B gene
24. Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene
25. Truncated variants of apolipoprotein B cause hypolipoproteinemia
26. Hypolipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Al-Alu recombination
27. Clinical syndromes associated with hypoxanthine-guanine phosphoribosyltransferase deficiency
28. A familial disorder of uric acid metabolism and central nervous system function
29. Automated DNA sequencing of the HPRT locus
30. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct sequencing of in vitro amplified cDNA
31. Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions
32. Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome
33. Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome
34. Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications
35. Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome
36. Sequential insertion of Alu family repeats into specific genomic sites of higher primates
37. Amphioxus mitochondrial DNA, chordate phylogeny, and the limits of inference based on comparison of sequences
38. Which mammalian supertree to bark up?
39. Molecular and morphological supertrees for eutherian (placental) mammals
40. 2-plasmin inhibitor gene
41. A human dimorphism resulting from loss of anAlu
42. Newly arisen DNA repeats in primate phylogeny
43. The emergence of new DNA repeats and the divergence of primates
44. Determination of the phylogenetic relationship among Pacific salmonids by using short interspersed elements (SINEs) as temporal landmarks of evolution
45. Species-specific amplification of tRNA-derived short interspersed repetitive elements (SINEs) by retroposition: A process of parazitation of entire genomes during the evolution of salmonids
46. Characterization of species-specifically amplified SINEs in three salmonid species-chum salmon, pink salmon, and kokanee: The local environment of the genome may be important for the generation of a dominant source gene at a newly retroposed locus
47. Molecular evidence from retroposons that whales form a clade within even-toed ungulates
48. Phylogenetic relationships among cetartiodactyls based on insertions of short and long interspersed elements: Hippopotamuses are the closest extant relatives of whales
49. Alu-mediated phylogenetic novelties in gene regulation and development
50. Identification of a nondeletion defect in α-thalassemia
51. Sequencing end-labeled DNA with base-specific chemical cleavages