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Mutations (continued) transversion, 3:95 of viral genes, 2:128 See also Chromosomal aberrations; DNA repair; Frameshift mutations; Gain-of-function mutations; Knock-in mutants; Knock-out mutants; Loss-of-function mutations; Mosaicism; Pleiotropy; Point mutations; specific diseases Mutations, detecting

1:20, 3:92 artificial chromosome study tools, 1:145 chromosomal aberrations,

3:92-93 homologous sequence tools,

2:157-158 and mutation rates, 3:100 restriction and physical maps,

1:155-156, 1:156 somatic, 3:93 Mutations, specific genes ;gDF508, 1:200, 1:202 A3243G, 3:54 ADA, 4:75

androgen receptor gene, 1:21,

2:65-66 APC, 1:167-168, 4:146, 4:153 BRCA1 and BRCA2, 4:153 CDKN1C, 4:153 c-myc, 3:96 COMP, 2:132 DNMT3B, 3:49 DRD4, 1:41 dystrophin, 3:85, 3:100 factor VIII, 2:143, 4:174 fibroblast growth factor receptor,

2:67, 2:130 FIX, 2:143, 2:145 FMR-1, 3:49 GH, 2:129

globin proteins, 2:137 HEXA and HEXB genes, 4:98,

IL-2 cytokine receptor, 4:75 MEN1, 4:153 neor gene, 4:125-126 NF1 and NF2, 3:130, 3:153, 4:153

p53, 2:5, 3:130, 4:154-155, 4:169 phenylalanine hydroxylase gene, 2:55

proto-oncogenes, 1:99-100,

RAG1 and RAG2, 4:76 Rb, 1:96-97, 1:96, 3:130, 4:153 TK, 4:125-126 TSC1 and TSC2, 4:153 v-erbB, 3:130 v-fms, 3:130 Mycobacteria, inteins, 3:181 Mycobacterium tuberculosis antibiotic resistance, 1:26 genome characteristics, 1:142, 2:121

Mycoplasma, antibiotic resistance, 1:27

Mycoplasma capricolum, exceptions to universal code, 2:87 Mycoplasma genitalium, genome characteristics, 1:142, 1:143, 2:116, 2:172

Mycoplasma pneumoniae, genome characteristics, 1:142 Myeloid blood cells, cancerous tumors, 1:94 Myelomas, defined, 1:93 MyoD protein, forced expression of, 2:65

Myoglobin proteins defined, 2:29

evolutionary origin, 3:212, 3:212 tertiary structure, 3:201 Myosin function, 3:199 in roundworms, 4:63 Myotonic dystrophy clinical features, 2:202 progeroid aspects, 1:2 Myrmecia pilosula, chromosome number, 2:113 Myxococcus xanthus, chromosome size, 2:116

Na+/K+ ATPase pump, 3:204 Nagasaki (Japan), radiation-caused mutations, 2:171, 2:173 Nagel's anomaloscope color vision test, 1:172 Nanometers, defined, 1:133, 1:170 Nash family, preimplantation genetic diagnosis, 3:186, 4:29-30 Nathans, Daniel, 1:71 National Academy of Sciences, Human Genome Project role, 2:173

National Center for Biotechnology Information (NCBI), 1:142, 2:156, 2:176, 2:212 National Institutes of Health (NIH) genetic discrimination studies, 2:94

Human Genome Project role,

2:173-174, 2:176 population screening, 3:177 National Research Council, Human

Genome Project role, 2:173 National Science Foundation, Human Genome Project role, 2:173

National Society of Genetic Counselors, 2:90, 2:91 Native Americans diabetes prevalence, 1:210 eugenic fitness ranking, 2:17 Natronobacterium, 1:37 Natronococcus, 1:37 Natronosomonas, 1:37 Natural enemies, as biopesticides,

1:57-58 Natural law ethics, 4:28 Natural selection for antibiotic-resistant bacteria, 4:44

distinguished from genetic drift,

2:70-71 and divergence from common ancestry, 3:63 duplicate genes, removal/conservation of, 2:28, 2:69, 2:158 eugenics and, 2:17 genetic basis for, 1:131, 2:21,

2:26, 2:29 in Hardy-Weinberg model,

2:134, 2:135 intron removal and, 2:31 mutations, consequences,

3:93-94, 4:67-68 mutations, removal of harmful, 2:158

speciation and, 2:156, 4:92 Nature of the gene. See Gene nature Nazi Germany, eugenics movement,

2:16, 2:90, 4:26 NCBI (National Center for Biotechnology Information), 1:142, 2:156, 2:176, 2:212 ND10. See PML bodies Neandertals distinguished from modern humans, 3:66-67, 3:66, 3:69, 3:167

DNA analysis, 3:68-69 replaced by modern humans, 3:170

Necrosis, defined, 1:31, 4:169 Negative selection marker systems, 3:16

Neisseria gonorrhea, antibiotic resistance, 1:26, 1:27, 1:28 Neisseria meningitidis, genome characteristics, 1:142 Nematodes as biopesticides, 1:57 defined, 1:57, 4:62 holocentric chromosomes, 1:114 plant resistance to, 1:149 See also Roundworms Neonatal, defined, 1:3 Neoplasms defined, 1:92 See also Tumors Neor gene, targeting studies,

4:125-126 NER (nucleotide excision repair),

1:244-246, 1:245, 1:247 Neural tube defects (NTDs) as multifactorial disorder, 1:77-78

prenatal genetic testing, 3:184, 3:185

NeuroD1/beta2 genes, and diabetes, 1:211 Neurofibromatosis

Alu sequences and, 4:146 genomic screening, 2:168 pleiotropic effects, 3:153, 3:154 tumor suppressor genes, 4:153 Neuroimaging, defined, 1:40 Neurological crises, metabolic diseases, 3:42 Neurological, defined, 3:42 Neurological disorders mitochondrial diseases, 3:54 Parkinson's disease, 1:228, 2:5-6,

3:190, 4:159, 4:160-161 polyglutamine disorders, 4:151 Neurons defined, 1:15, 3:45 FMR-1 protein and, 1:76 membrane transport, 1:109 Neurospora, biochemical genetics studies, 3:103 Neurotransmitters defined, 1:5, 4:85 for dopamine and serotonin, 1:5,

1:39-41, 1:41 signal transduction role, 4:85 New Synthesis, 3:32 Newborn screening, 2:98-99 congenital adrenal hyperplasia,

3:176, 3:177 cystic fibrosis, 3:177

galactosemia, 3:44 hemoglobinopathies, 3:177 hypothyroidism, 3:176-177 medium-chain acyl-CoA dehydrogenase deficiency, 3:176 phenylketonuria, 3:42-43, 3:176, 3:218-219 Newborn screening tests

3:176-177 Guthrie, 3:176

hemoglobin electrophoresis, 3:176 Neyman, Jerzy, 4:97 NF1 and NF2 genes, 3:130, 3:153, 4:153

Nic sites, on DNA, 3:151, 3:151 Nickel, hyperaccumulators of, 1:61 Nicotine addiction. See Smoking NIH (National Institutes of Health) genetic discrimination studies, 2:94

Human Genome Project role, 2:173-174, 2:176 Nirenberg, Marshall, 1:193,

1:252-253 Nitrite preservatives, as mutagens, 3:88

Nitrogen fixation, transgenic plants, 2:106 Nobel Prizes bacterial genetics, 1:183-184 blood group systems, 1:82 chromosomal theory of inheritance, 3:76, 3:80 DNA sequencing methods,

2:172, 4:64-65 DNA structure, 2:171, 4:172 Kuru transmission, 3:189 multiple, Fred Sanger, 4:64 oncogene research, 4:38 operon discovery, 3:131 PCR invention, 2:172, 3:91,

3:154 phage genetics, 1:204 prion hypothesis, 3:187 radiation-induced mutations, 3:81

recombinant DNA, 1:71, 1:72 restriction enzymes, 1:71 retroviral reverse transcriptase,

4:35, 4:40 RNA catalysts, 4:44 site-directed mutagenesis, 3:91 transposable genetic elements, 3:10, 3:22 Nomenclature, 3:106-108 Noncoding DNA sequences. See Introns

Nondisjunction, 1:120, 3:108-112 aging and, 3:112 and aneuploidy, 1:257,

3:110-111, 3:166 and chromosomal mosaicism,

3:79 defined, 1:121 early studies, 1:131 fatal vs. non-fatal conditions, 3:111

mechanism, 3:108-109, 3:109 spindle checkpoint errors, 3:111-112 Non-insulin-dependent diabetes mellitus (diabetes type 2), 1:209, 1:210, 1:212, 3:125, 3:154 Nonpolar, defined, 1:116, 3:200 Nonprocessed pseudogenes,

3:210-211, 3:210 Nonsense mutations, 2:127, 3:153 Nontemplate strands, 4:107 NOR-staining of chromosomes, 1:128 Northern blotting defined, 1:86 procedure, 1:86-88 Novartis, drug development, 2:124 NPY mice, 1:5 NTDs (neural tube defects) as multifactorial disorder, 1:77-78

prenatal genetic testing, 3:184, 3:185

N-terminus, of amino acids/proteins, 3:181, 3:197-198, 3:207 Nuclear hormone receptor super-family anabolic steroids, 2:163 function, 2:161-163 mutations, consequences, 4:115 number, in humans, 2:161 number, in roundworms, 2:161-162 RXR partners, 2:160 Nuclear lamina, 3:120, 3:121, 3:121, 3:125

Nuclear localization signals, 3:126 Nuclear magnetic resonance, 3:71, 4:48

Nuclear membranes (envelopes), 1:105

breakdown and reformation,

structure and function, 1:112, 1:139, 3:120, 3:120, 3:122, 3:123, 3:125 Nuclear pores, structure and function, 3:120, 3:121, 3:122-123, 3:123, 3:125-126

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