Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

Human Mutation

Volumn 1, Issue 6, 1992, Pages 445-466

  Hobbs, Helen H ^a   Brown, Michael S ^a   Goldstein, Joseph L ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Coronary atherosclerosis; Familial hypercholesterolemia (FH); Low density lipoprotein (LDL) receptor; Membrane proteins; Mutations; Receptor mediated endocytosis

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

ALLELE; AMINO ACID SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; GENETICS; HUMAN; MOLECULAR BIOLOGY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; REVIEW;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; HUMAN; HYPERCHOLESTEROLEMIA, FAMILIAL; MOLECULAR BIOLOGY; MOLECULAR SEQUENCE DATA; RECEPTORS, LDL; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027026881     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380010602     Document Type: Article

References (116)

1. The Finnish type of the LDL receptor gene mutation. Molecular characterization of the deleted gene and the corresponding mRNA
2. Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland
3. Intracellular protein trafficking defects in human disease
4. Role of the coated endocytic vesicle in the uptake of receptor–bound low density lipoprotein in human fibroblasts
5. The insulin receptor juxtamembrane region contains two independent tyrosine/β–turn internalization signals
6. The NPXY internalization signal of the LDL receptor adopts a reverse–turn conformation
7. The receptor for yolk lipoprotein deposition in the chicken oocyte
8. Lipoprotein lipase enhances the binding of chylomicrons to low density lipoprotein receptor–related protein
9. A large delection in the LDL receptor gene–the cause of familial hypercholesterolemia in three Italian families: A study that dates back to the 17th century (FH–Pavia)
10. II. Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia
11. Sources and evolution of human Alu repeated sequences
12. Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor–bound low density lipoprotein
13. A receptor–mediated pathway for cholesterol homeostasis
14. The lowdensity lipoprotein receptor–related protein: double agent or decoy?
15. 2–macroglobulin receptor is an hepatic receptor for tissue–type plasminogen activator (t–PA)
16. NPXY, a sequence often found in cytoplasmic tails, is required for coated pitmediated internalization of the low density lipoprotein receptor
17. Transplanted LDL and mannose–6–phosphate receptor internalization signals promote high–efficiency endocytosis of the transferrin receptor
18. The CpG dinucleotide and human genetic disease
19. The J.D. mutation in familial hypercholesterolemia: Amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors
20. Acid–dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region
21. The LDL receptor: Identification of amino acids in cytoplasmic domain required for rapid endocytosis
22. Transport–deficient mutations in the low density lipoprotein receptor: Alterations in the cysteinerich and cysteine–poor regions of the protein block intracellular transport
23. Two mutant low–density–lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity
24. Presence of the French Canadian deletion in a french patient with familial hypercholesterolemia
25. Protein folding in the cell
26. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia
27. Coated pits, coated vesicles, and receptor–mediated endocytosis
28. Receptor–mediated endocytosis of LDL in cultured cells
29. Receptor–mediated endocytosis: Concepts emerging from the LDL receptor system
30. Familial hypercholesterolemia
31. Regulation of the mevalonate pathway
32. A new LDL receptor gene deletion mutation in the South African population
33. Surface location and high affinity for calcium of a 500–kd liver membrane protein closely related to the LDL–receptor suggest a physiological role as lipoprotein receptor
34. Deletion of exon encoding cysteine–rich repeat of LDL receptor alters its binding specificity in a subject with familial hypercholesterolemia
35. Deletion in the gene for the LDL receptor in majority of French Canadians with familial hypercholesterolemia
36. Multiple crm–mutations in familial hypercholesterolemia: Evidence for 13 alleles, including four deletions
37. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
38. The LDL receptor locus and familial hypercholesterolemia: Mutational analysis of a membrane protein
39. Unequal crossing–over between two Alu–repetitive DNA sequences in the low–density–lipoprotein–receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia
40. Identification of deletions in the human low density lipoprotein receptor gene
41. Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination
42. Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution
43. Repetitive sequences in eukaryotic DNA and their expression
44. New variant of low density lipoprotein receptor gene FH–Tonami
45. Novel gene mutations at the low density lipoprotein receptor locus: FH–Kanazawa and FH–Okayama
46. Genetically determined mild type of familial hypercholesterolemia including normocholesterolemic patients: FH–Tonami–2
47. Mutations altering the structure of epidermal growth factor–like coding at the drosophila notch locus
48. Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolemia in the UK
49. Defective processing and binding of low–density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject
50. Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels
51. The familial hypercholesterolemia (FH)–north Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland
52. Structure and function of the mannose 6–phosphate/insulinlike growth factor II receptors
53. The identification of two low–density lipoprotein receptor gene mutations in South African familial hypercholesterolemia
54. The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners
55. 2–macroglobulin receptor/low density lipoprotein receptor–related protein binds and internalizes Pseudomanas exotoxin A
56. Evidence that the newly cloned low–density–lipoprotein receptor related protein (LRP) is the α2–macroglobulin receptor
57. A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze Sect
58. Characterization of six partial deletions in the low–density–lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)
59. Laboratory Methods: Alternative dideoxy sequencing of double–stranded DNA by cyclic reactions using Taq polymerase
60. Internalization–defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain
61. Mutation in LDL receptor: Alu–Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
62. Exon–Alu recombination deletes 5 kilobases from low density lipoprotein receptor gene, producing null phenotype in familial hypercholesterolemia
63. Duplication of seven exons in LDL receptor gene caused by Alu–Alu recombination in a subject with familial hypercholesterolemia
64. Alu–Alu recombination deletes splice acceptor sites and produces secreted LDL receptor in a subject with familial hypercholesterolemia
65. The Lebanese allele at the LDL receptor locus: Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum
66. Deletion in the first cysteinerich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia
67. Polymorphic DNA haplotypes at the LDL receptor locus
68. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners
69. Common low–density lipoprotein receptor mutation sin the French Canadian population
70. Duplication of exons 13, 14, and 15 of the LDL–receptor gene in a patient with heterozygous familial hypercholesterolemia
71. Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia
72. Recurrent mutation at aa 792 in the LDL receptor gene in a French patient
73. Identification of a second “French Canadian” LDL receptor gene deletion and development of a rapid method to detect both deletions
74. Cellular and molecular biology of lipoprotein metabolism: Characterization of lipoprotein receptor–ligand interactions
75. The low density lipoprotein receptor in Xenopus laevis: I. Five domains that resemble the human receptor
76. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews
77. Analysis of a recycling–impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia
78. Homozygous familial hypercholesterolemia among French Canadians in Quebec Province
79. Specific synthesis of DNA in vitro via a polymerase–catalyzed chain reaction
80. Structure and distribution of an Alu–type deletion mutation in Sandhoff disease
81. I. Familial hypercholesterolemia with “normal” cholesterol in obligate heterozygotes
82. Detection of polymorphisms of human DNA by gel electrophoresis as single–strand conformation polymorphisms
83. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
84. 2–macroglobulin receptor
85. Autoimmune target in heymann nephritis is a glycoprotein with homology to the LDL receptor
86. Specific EGF repeats of Notch mediate interactions with Delta and Serrate: Implications for Notch as a multifunctional receptor
87. Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low–density–lipoprotein receptor gene in a patient with familial hypercholesterolemia
88. DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia
89. The LDL receptor in familial hypercholesterolemia: Use of human mutations to dissect a membrane protein
90. Different combinations of cysteine–rich repeats mediate binding of low density lipoprotein receptor to two different proteins
91. Kinetic defects in the processing of the LDL receptor in fibroblasts from WHHL rabbits and a family with familial hypercholesterolemia
92. Prevalence of familial hypercholesterolemia in Johannesburg Jews
93. Inheritance of familial hypercholesterolemia
94. Identification of nucleotides responsible for enhancer activity of sterol regulatory element in low density lipoprotein receptor gene
95. Identification of a point mutation in growth factor repeat C of the low density lipoprotein–receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors
96. Elevated cholesterol and bile acid synthesis in an adult patient with homozygous familial hypercholesterolemia
97. Sequence identity between the α2–macroglobulin receptor and low density lipoprotein receptor–related protein suggests that this molecule is a multifunctional receptor
98. The LDL receptor gene: A mosaic of exons shared with different proteins
99. Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom
100. The rabbit very low density lipoprotein receptor: A low density lipoprotein receptor–like protein with distinct ligand specificity
101. A study of familial hypercholesterolemia in Iceland using RFLPs
102. Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients. Presence of a common 4 kb deletion
103. β→ Thalassemia in Sardinia is caused by a nonsense mutation
104. Coinheritance of two mild defects in low density dipoprotein receptor function produces severe hypercholesterolemia
105. Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolemic patients
106. Deletion of two growth–factor repeats from the low–density–lipoprotein receptor accelerates its degradation
107. Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical area
108. Primary familial hypercholesterolemia in a South African Black
109. The structure of an endocytosis signal
110. Low density lipoprotein kinetics in a family having defective low density lipoprotein receptors in which hypercholesterolemia is suppressed
111. Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia
112. Low density lipoprotein receptor–related protein (LRP) and gp330 bind similar ligands, including plasminogen activator/inhibitor complexes and lactoferrin, an inhibitor of chylomicron remnant clearance
113. Three novel partial deletions of the low–density lipoprotein (LDL) receptor gene in familial hypercholesterolemia
114. The human LDL receptor: A cysteine–rich protein with multiple Alu sequences in its mRNA
115. Deletion in cysteine–rich region of LDL receptor impedes transport to cell surface in WHHL rabbit