Хромозома 17
Хромозома 17 е една от 23-те двойки хромозоми при хората, които нормално имат две копия на тази хромозома. Тя е със субметацентрична форма, т.е. центромера не разделя хромозомата на две равни рамена. Хромозома 17 обхваща повече от 84 милиона базови двойки (строителният материал на ДНК ) и представлява между 2,5 и 3% от общата ДНК в клетките.
Хромозома 17 съдържа генния клъстер Homeobox B.
Гени
[редактиране | редактиране на кода]Брой гени
[редактиране | редактиране на кода]По-долу в таблицата се вижда приблизителния брой гени, откриващи се в хромозома 17. Тъй като учените използват различни подходи за анотация на генома, техните прогнози за броя на гените на всяка хромозома варират (за технически подробности вижте генно прогнозиране). Сред различните проекти, проектът за съвместна консенсусна кодираща последователност ( CCDS ) използва изключително консервативна стратегия. Така че прогнозата за броя на гените на CCDS представлява най-общо казано долна граница на общия брой протеин кодиращи гени. [1]
| Оценено от | Протеин кодиращи гени | Некодиращи РНК гени | Псевдогени | Източник | Дата на излизане |
|---|---|---|---|---|---|
| CCDS | 1,124 | — | — | [2] | 2016-09-08 |
| HGNC | 1,132 | 325 | 458 | [3] | 2017-05-12 |
| Ансамбл | 1,184 | 1,199 | 535 | [4] | 2017-03-29 |
| UniProt | 1,169 | — | — | [5] | 2018-02-28 |
| NCBI | 1,199 | 757 | 566 | [6] [7] [8] | 2017-05-19 |
Списък на гени
[редактиране | редактиране на кода]В следващия списък са представени част от гените разположени в хромозома 17. За пълен списък вижте връзката в информационното поле вдясно.
- 2700099C18Rik: encoding protein NDC80 homolog, kinetochore complex component pseudogene
- ABI3: encoding protein ABI gene family member 3
- ABR: encoding protein Abr, rhogef and gtpase activating protein
- ARHGAP44: encoding protein Rho GTPase activating protein 44
- AZI1: encoding protein 5-azacytidine-induced protein 1
- BRCA1P1: encoding protein BRCA1 pseudogene 1
- BCPR encoding protein Breast cancer-related regulator of TP53
- C17orf98: encoding protein C17orf98
- C1QL1: encoding protein complement component 1, q subcomponent-like 1
- CCDC144A: encoding protein Coiled-coil domain-containing protein 144A
- CCDC40: encoding protein Coiled-coil domain containing 40
- CCDC47: encoding protein CCDC47
- CCDC57: encoding protein Coiled-coil domain-containing protein 57
- CLUH: encoding protein Clustered mitochondria (cluA/CLU1) homolog
- CTDNEP1: encoding protein CTD nuclear envelope phosphatase 1
- DEL17P13.1 encoding protein Chromosome 17p13.1 deletion syndrome
- DHX8: encoding protein DEAH-box helicase 8
- DPH1 encoding protein Diphthamide biosynthesis protein 1
- DUP17Q12: encoding protein Chromosome 17q12 duplication syndrome
- FAM20A: encoding protein FAM20A
- GAS7: encoding protein Growth arrest-specific protein 7
- GGT6: encoding protein Gamma-glutamyltransferase 6
- HN1: encoding protein Hematological and neurological expressed 1 protein
- IBD22 encoding protein Inflammatory bowel disease-22
- LINC00511: encoding protein Long intergenic non-protein coding RNA 511
- LINC00674 encoding protein Long intergenic non-protein coding RNA 674
- LRRC37A encoding protein Leucine rich repeat containing 37A
- LRRC48: encoding protein Leucine-rich repeat-containing protein 48
- MBTD1: encoding protein Malignant Brain Tumor domain containing 1
- METTL16: encoding protein Methyltransferase like 16
- MGAT5B: encoding enzyme Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
- MIR195: encoding protein MicroRNA 195
- MIR4521: encoding protein MicroRNA 4521
- MLLT6: encoding protein MLLT6, PHD finger containing
- MSI2: encoding protein Musashi RNA binding protein 2
- MYBBP1A: encoding protein Myb-binding protein 1A
- MYCBPAP: encoding protein MYCBP associated protein
- NBP: encoding peptide Neuropeptide B
- NME1-NME2:
- NXPH3: encoding protein Neurexophilin-3
- OMG: encoding protein Oligodendrocyte-myelin glycoprotein
- Ormdl sphingolipid biosynthesis regulator 3: encoding protein ORMDL sphingolipid biosynthesis regulator 3
- PLXDC1: encoding protein Plexin domain-containing protein 1
- PNPO: encoding enzyme Pyridoxine-5'-phosphate oxidase
- PPP1R27: encoding protein Protein phosphatase 1, regulatory subunit 27
- PRCD: encoding protein Progressive rod-cone degeneration
- PRPSAP2: encoding protein Phosphoribosyl pyrophosphate synthetase-associated protein 2
- PRR29: encoding protein Proline-rich protein 29
- QRICH2: encoding protein Glutamine-rich protein 2
- RAP1GAP2: encoding protein RAP1 GTPase activating protein 2
- RFFL: encoding enzyme E3 ubiquitin-protein ligase rififylin
- RNMTL1: encoding enzyme RNA methyltransferase-like protein 1
- RPAIN: encoding protein RPA-interacting protein
- RPL23A: encoding protein 60S ribosomal protein L23a
- SC65: encoding protein Synaptonemal complex protein SC65
- SCPEP1: encoding enzyme Retinoid-inducible serine carboxypeptidase
- SEBOX: encoding protein SEBOX homeobox
- SECTM1: encoding protein Secreted and transmembrane protein 1
- SEPTIN4: encoding Septin4
- SKA2: encoding protein Spindle and Kinetochore Associated
- SLC39A11: encoding protein Solute carrier family 39 member 11
- SLFN11: encoding protein Schlafen family member 11
- SLFN12: encoding protein Schlafen family member 12
- SNF8: encoding protein Vacuolar-sorting protein SNF8
- SPACA3: Sperm acrosome membrane-associated protein 3
- SPAG5: encoding protein Sperm-associated antigen 5
- ST6GALNAC1: encoding enzyme Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
- ST6GALNAC2: encoding enzyme Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
- STH: encoding protein Saitohin
- SUZ12P1 encoding protein SUZ12 polycomb repressive complex 2 subunit pseudogene 1
- TAC4: encoding protein Tachykinin-4
- TBC1D3: encoding protein TBC1 domain family member 3E/3F
- TMEM106A: encoding protein Transmembrane protein 106A
- TMEM98: encoding protein Transmembrane protein 98
- TNFSF12-TNFSF13:
- TOM1L1: encoding protein TOM1-like protein 1
- TOM1L2: encoding protein TOM1-like protein 2
- TRIM65: encoding protein Tripartite motif containing 65
- TRPV1: encoding protein Transient receptor potential cation channel subfamily V member 1
- TSEN54: encoding protein TRNA splicing endonuclease subunit 54
- TTYH2: encoding protein Tweety family member 2
- VAT1: encoding protein Synaptic vesicle membrane protein VAT-1 homolog
- VPS25: encoding protein Vacuolar protein-sorting-associated protein 25
- VPS53: encoding protein Vacuolar protein sorting 53 homolog (S. cerevisiae)
- YBX2: encoding protein Y-box-binding protein 2
- ZNF207: encoding protein Zinc finger protein 207
- ZNF830: encoding protein Zinc finger protein 830
- Several CC chemokines: CCL1, CCL2, CCL3, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, and CCL23
В този списък са представени някои от гените и цитогенетичното им разположение в хромозома 17:
p-рамо (късо рамо)
[редактиране | редактиране на кода]- FLCN: folliculin (17p11.2)
- MYO15A: myosin XVA (17p11.2)
- RAI1: retinoic acid induced 1 (17p11.2)
- PMP22: peripheral myelin protein 22 (17p12)
- CTNS: cystinosin, the lysosomal cystine transporter (17p13)
- USP6: Ubiquitin carboxyl-terminal hydrolase 6 linked to Aneurysmal bone cyst (17p13)
- ACADVL: acyl-coenzyme A dehydrogenase, very long chain (17p13.1)
- SHBG: Sex hormone binding globulin (17p13.1)
- TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene (17p13.1)
- ASPA: aspartoacylase (Canavan disease) (17p13.3)
- GLOD4: glyoxalase domain containing 4 (17p13.3)
q-рамо (дълго рамо)
[редактиране | редактиране на кода]- CCDC55: Coiled-coil domain-containing protein 55 (17q11.2)
- FLOT2: flotillin 2 (17q11.2)
- NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (17q11.2)
- SLC6A4: Serotonin transporter linked to Obsessive Compulsive Disorder (OCD) [9] (17q11.2)
- CCL4L1: C-C motif chemokine ligand 4 like 1 (17q12)
- DDX52: DExD-box helicase 52 (17q12)
- ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (17q12)
- GRB7: Growth factor Receptor-Bound protein 7 (17q12)
- BRCA1: breast cancer 1, early onset (17q21)
- GFAP: glial fibrillary acidic protein (17q21)
- RARA or RAR-alpha: Retinoic acid receptor Alpha (involved in t(15,17) with PML) (17q21)
- MAPT gene coding for encoding tau protein (17q21.1)
- NAGLU: N-acetyl glucosaminidase, Sanfilippo B syndrome (17q21.2)
- SLC4A1: Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)
- CBX1: chromobox homolog 1 (17q21.32)
- COL1A1: collagen, type I, alpha 1 (17q21.33)
- LUC7L3: LUC7 like 3 pre-mRNA splicing factor (17q21.33)
- NOG: Noggin protein (17q22)
- RPS6KB1 or S6K: Ribosomal protein S6-kinase (17q23.1)
- FTSJ3: FtsJ homolog 3 (17q23.3)
- SCN4A: Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 (17q23.3)
- GALK1: galactokinase 1 (17q24)
- KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)
- ACTG1: actin, gamma 1 (17q25)
- CDC42EP4: CDC42 effector protein 4 (17q25.1)
- USH1G: Usher syndrome 1G (autosomal recessive) (17q25.1)
- CANT1: Calcium-activated nucleotidase 1 (17q25.3)
- BIRC5: Survivin (17q25.3)
- CHMP6: Charged multivesicular body protein 6 (17q25.3)
- ENPP7: ectonucleotide pyrophosphatase/phosphodiesterase 7 (17q25.3)
- EPR1: Effector cell peptidase receptor 1 (17q25.3
- RHBDF2: Rhomboid family member 2 (17q25.3)
- TMC6 and TMC8: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)
- WT4: encoding protein Wilms tumor-4
Хромозомни болести
[редактиране | редактиране на кода]
Следните заболявания са свързани с гени от хромозома 17:
- 17q12 microdeletion syndrome
- Koolen–de Vries syndrome
- Alexander disease
- Andersen–Tawil syndrome
- Aneurysmal bone cyst
- Birt–Hogg–Dubé syndrome
- Bladder cancer
- Breast cancer
- Bruck syndrome
- Campomelic dysplasia
- Canavan disease
- Cerebroretinal microangiopathy with calcifications and cysts
- Charcot–Marie–Tooth disease
- Chronic lymphocytic leukaemia, tp53
- Corticobasal degeneration
- Cystinosis
- Depression
- Ehlers–Danlos syndrome
- Epidermodysplasia verruciformis
- Frontotemporal dementia and parkinsonism linked to chromosome 17
- Galactosemia
- Glycogen storage disease type II (Pompe disease)
- Hereditary neuropathy with liability to pressure palsies
- Howel–Evans syndrome
- Li–Fraumeni syndrome
- Maturity onset diabetes of the young type 5
- Miller–Dieker syndrome
- Multiple synostoses syndrome
- Neurofibromatosis type I
- Nonsyndromic deafness
- Obsessive–compulsive disorder
- Osteogenesis imperfecta
- Potocki–Lupski syndrome
- Proximal symphalangism
- Sanfilippo syndrome
- Smith–Magenis syndrome
- Usher syndrome
- Very long-chain acyl-coenzyme A dehydrogenase deficiency
- Von Gierke's syndrome
Цитогенетична лента (бенд)
[редактиране | редактиране на кода]
| Хромозома | Рамо | Бенд | ISCN начало |
ISCN край[1] |
Базови двойки начало | Базови двойки край | Оцветяване | Density |
|---|---|---|---|---|---|---|---|---|
| 17 | p | 13.3 | 0 | 385 | 1 | 3,400,000 | gneg | |
| 17 | p | 13.2 | 385 | 550 | 3,400,001 | 6,500,000 | gpos | 50 |
| 17 | p | 13.1 | 550 | 784 | 6,500,001 | 10,800,000 | gneg | |
| 17 | p | 12 | 784 | 990 | 10,800,001 | 16,100,000 | gpos | 75 |
| 17 | p | 11.2 | 990 | 1499 | 16,100,001 | 22,700,000 | gneg | |
| 17 | p | 11.1 | 1499 | 1664 | 22,700,001 | 25,100,000 | acen | |
| 17 | q | 11.1 | 1664 | 1815 | 25,100,001 | 27,400,000 | acen | |
| 17 | q | 11.2 | 1815 | 2104 | 27,400,001 | 33,500,000 | gneg | |
| 17 | q | 12 | 2104 | 2255 | 33,500,001 | 39,800,000 | gpos | 50 |
| 17 | q | 21.1 | 2255 | 2461 | 39,800,001 | 40,200,000 | gneg | |
| 17 | q | 21.2 | 2461 | 2599 | 40,200,001 | 42,800,000 | gpos | 25 |
| 17 | q | 21.31 | 2599 | 2874 | 42,800,001 | 46,800,000 | gneg | |
| 17 | q | 21.32 | 2874 | 3025 | 46,800,001 | 49,300,000 | gpos | 25 |
| 17 | q | 21.33 | 3025 | 3176 | 49,300,001 | 52,100,000 | gneg | |
| 17 | q | 22 | 3176 | 3383 | 52,100,001 | 59,500,000 | gpos | 75 |
| 17 | q | 23.1 | 3383 | 3451 | 59,500,001 | 60,200,000 | gneg | |
| 17 | q | 23.2 | 3451 | 3658 | 60,200,001 | 63,100,000 | gpos | 75 |
| 17 | q | 23.3 | 3658 | 3781 | 63,100,001 | 64,600,000 | gneg | |
| 17 | q | 24.1 | 3781 | 3850 | 64,600,001 | 66,200,000 | gpos | 50 |
| 17 | q | 24.2 | 3850 | 4001 | 66,200,001 | 69,100,000 | gneg | |
| 17 | q | 24.3 | 4001 | 4166 | 69,100,001 | 72,900,000 | gpos | 75 |
| 17 | q | 25.1 | 4166 | 4400 | 72,900,001 | 76,800,000 | gneg | |
| 17 | q | 25.2 | 4400 | 4510 | 76,800,001 | 77,200,000 | gpos | 25 |
| 17 | q | 25.3 | 4510 | 4950 | 77,200,001 | 83,257,441 | gneg |
Източници
[редактиране | редактиране на кода]- ↑ Pertea M, Salzberg SL. Between a chicken and a grape: estimating the number of human genes. // Genome Biol 11 (5). 2010. DOI:10.1186/gb-2010-11-5-206. с. 206.
- ↑ Search results – 17[CHR] AND „Homo sapiens“[Organism] AND („has ccds“[Properties] AND alive[prop]) – Gene // NCBI. Посетен на 2017-05-28.
- ↑ Statistics & Downloads for chromosome 17 // HUGO Gene Nomenclature Committee. Архивиран от оригинала на 2017-08-18. Посетен на 2017-05-19.
- ↑ Chromosome 17: Chromosome summary – Homo sapiens // Ensembl Release 88. Посетен на 2017-05-19.
- ↑ Human chromosome 17: entries, gene names and cross-references to MIM // UniProt. Посетен на 2018-03-16.
- ↑ Search results – 17[CHR] AND „Homo sapiens“[Organism] AND („genetype protein coding“[Properties] AND alive[prop]) – Gene // NCBI. Посетен на 2017-05-20.
- ↑ Search results – 9[CHR] AND „Homo sapiens“[Organism] AND ( („genetype miscrna“[Properties] OR „genetype ncrna“[Properties] OR „genetype rrna“[Properties] OR „genetype trna“[Properties] OR „genetype scrna“[Properties] OR „genetype snrna“[Properties] OR „genetype snorna“[Properties]) NOT „genetype protein coding“[Properties] AND alive[prop]) – Gene // NCBI. Посетен на 2017-05-20.
- ↑ Search results – 17[CHR] AND „Homo sapiens“[Organism] AND („genetype pseudo“[Properties] AND alive[prop]) – Gene // NCBI. Посетен на 2017-05-20.
- ↑ Obsessive Compulsive Disorder
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Тази страница частично или изцяло представлява превод на страницата Chromosome 17 в Уикипедия на английски. Оригиналният текст, както и този превод, са защитени от Лиценза „Криейтив Комънс – Признание – Споделяне на споделеното“, а за съдържание, създадено преди юни 2009 година – от Лиценза за свободна документация на ГНУ. Прегледайте историята на редакциите на оригиналната страница, както и на преводната страница, за да видите списъка на съавторите.
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