Chromosome 1 Explained

Length Bp:	248,387,328 bp (CHM13)
Genes:	1,961 (CCDS)
Type:	Autosome
Centromere Position:	Metacentric^[1] (123.4 Mbp^[2])
Chr:	1
Ensembl Id:	1
Entrez Id:	1
Ncbi Id:	1
Ucsc Id:	1
Refseq Id:	NC_000001
Genbank Id:	CM000663

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA.^[3] It represents about 8% of the total DNA in human cells.^[4]

It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.^[5]

Estimated by	Protein-coding genes	Non-coding RNA genes	Pseudogenes	Source	Release date
	1,961	—	—	^[6]	2016-09-08
HGNC	1,993	707	1,113	^[7]	2017-05-12
	2,044	1,924	1,223	^[8]	2017-03-29
	2,064	—	—	^[9]	2018-02-28
	2,093	1,790	1,426	^[10] ^[11] ^[12]	2017-05-19

Gene list

The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right.

• C1orf112: encoding protein Chromosome 1 open reading frame 112
• C1orf127: encoding protein Chromosome 1 open reading frame 127
• C1orf27: encoding protein Chromosome 1 open reading frame 27
• C1orf38: encoding protein Chromosome 1 open reading frame 38
• CCDC181: encoding protein Coiled-coil domain-containing protein 181
• DENN1B: hypothesized to be related to asthma
• FHAD1: encoding protein Forkhead-associated domain containing protein 1
• LOC100132287: uncharacterized protein
• LRRIQ3: encoding protein Leucine-rich repeats and IQ motif containing 3
• Shisa family member 4: encoding protein Shisa family member 4
• TINAGL1: encoding protein Tubulointerstitial nephritis antigen-like

p-arm

Partial list of the genes located on p-arm (short arm) of human chromosome 1:

q-arm

Partial list of the genes located on q-arm (long arm) of human chromosome 1:

Diseases and disorders

There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer's disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.

Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth.^[13] Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception. Some partial deletions and partial duplications produce birth defects.

The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):

• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome
• Alzheimer's disease
• Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
• Bipolar disorder
• Breast cancer
• Brooke Greenberg Disease (Syndrome X)
• Carnitine palmitoyltransferase II deficiency
• Charcot–Marie–Tooth disease, types 1 and 2
• collagenopathy, types II and XI
• congenital hypothyroidism
• Ehlers-Danlos syndrome
• Factor V Leiden thrombophilia
• Familial adenomatous polyposis
• galactosemia
• Gaucher disease
• Gaucher-like disease
• Gelatinous drop-like corneal dystrophy
• Glaucoma
• GLUT1 deficiency syndrome
• Hearing loss, autosomal recessive deafness 36
• Hemochromatosis
• Hepatoerythropoietic porphyria
• Homocystinuria
• Hutchinson Gilford progeria syndrome
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
• maple syrup urine disease
• medium-chain acyl-coenzyme A dehydrogenase deficiency
• Microcephaly
• Muckle–Wells syndrome
• Nonsyndromic deafness
• Oligodendroglioma
• Parkinson disease
• Pheochromocytoma
• porphyria
• porphyria cutanea tarda
• popliteal pterygium syndrome
• prostate cancer
• Stickler syndrome
• TAR syndrome
• trimethylaminuria
• Usher syndrome
• Usher syndrome type II
• Van der Woude syndrome
• Variegate porphyria

Cytogenetic band

G-bands of human chromosome 1 in resolution 850 bphs! Chr. ! Arm^[14] ! Band^[15] ! ISCN
start^[16] ! ISCN
stop! Basepair
start ! Basepair
stop ! Stain^[17] ! Density

1	p	36.33	0	100			gneg
1	p	36.32	100	244			gpos	25
1	p	36.31	244	344			gneg
1	p	36.23	344	459			gpos	25
1	p	36.22	459	660			gneg
1	p	36.21	660	861			gpos	50
1	p	36.13	861	1206			gneg
1	p	36.12	1206	1321			gpos	25
1	p	36.11	1321	1521			gneg
1	p	35.3	1521	1651			gpos	25
1	p	35.2	1651	1780			gneg
1	p	35.1	1780	1895			gpos	25
1	p	34.3	1895	2210			gneg
1	p	34.2	2210	2411			gpos	25
1	p	34.1	2411	2770			gneg
1	p	33	2770	2986			gpos	75
1	p	32.3	2986	3273			gneg
1	p	32.2	3273	3416			gpos	50
1	p	32.1	3416	3732			gneg
1	p	31.3	3732	3976			gpos	50
1	p	31.2	3976	4206			gneg
1	p	31.1	4206	4852			gpos	100
1	p	22.3	4852	5210			gneg
1	p	22.2	5210	5440			gpos	75
1	p	22.1	5440	5741			gneg
1	p	21.3	5741	5957			gpos	75
1	p	21.2	5957	6029			gneg
1	p	21.1	6029	6244			gpos	100
1	p	13.3	6244	6459			gneg
1	p	13.2	6459	6660			gpos	50
1	p	13.1	6660	6861			gneg
1	p	12	6861	7048			gpos	50
1	p	11.2	7048	7119			gneg
1	p	11.1	7119	7335			acen
1	q	11	7335	7579			acen
1	q	12	7579	8483			gvar
1	q	21.1	8483	8756			gneg
1	q	21.2	8756	8957			gpos	50
1	q	21.3	8957	9244			gneg
1	q	22	9244	9459			gpos	50
1	q	23.1	9459	9832			gneg
1	q	23.2	9832	10048			gpos	50
1	q	23.3	10048	10349			gneg
1	q	24.1	10349	10507			gpos	50
1	q	24.2	10507	10679			gneg
1	q	24.3	10679	10894			gpos	75
1	q	25.1	10894	11009			gneg
1	q	25.2	11009	11196			gpos	50
1	q	25.3	11196	11598			gneg
1	q	31.1	11598	11827			gpos	100
1	q	31.2	11827	11942			gneg
1	q	31.3	11942	12172			gpos	100
1	q	32.1	12172	12617			gneg
1	q	32.2	12617	12803			gpos	25
1	q	32.3	12803	13033			gneg
1	q	41	13033	13320			gpos	100
1	q	42.11	13320	13406			gneg
1	q	42.12	13406	13607			gpos	25
1	q	42.13	13607	13966			gneg
1	q	42.2	13966	14153			gpos	50
1	q	42.3	14153	14397			gneg
1	q	43	14397	14756			gpos	75
1	q	44	14756	15100			gneg

Further reading

• Murphy WJ, Fronicke L, O'Brien SJ, Stanyon R . The Origin of Human Chromosome 1 and Its Homologs in Placental Mammals . Genome Res . 2003 . 1880–8 . 13 . 8 . 12869576 . 10.1101/gr.1022303 . 403779.
• Revera . M. . Long-term follow-up of R403WMHY7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression . Cardiovascular Journal of Africa . 2007 . 18 . 3 . 146–153 . 17612745 . L . 4213759 . Heradien . M . Goosen . A . Corfield . VA . Brink . PA . Moolman-Smook . JC . 2 . Van Der Merwe .
• Schutte BC, Carpten JD, Forus A, Gregory SG, Horii A, White PS . Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000 . Cytogenet Cell Genet . 2001 . 23–41 . 92 . 1–2 . 11306795 . 10.1159/000056867 . 202651814 .

External links

• Web site: National Institutes of Health . Chromosome 1 . Genetics Home Reference . 2017-05-06 . 2012-02-04 . https://web.archive.org/web/20120204040022/http://ghr.nlm.nih.gov/chromosome=1 . dead .
• Web site: Final genome 'chapter' published. BBC News. 2006-05-18. 2017-05-06.
• Web site: Chromosome 1. Human Genome Project Information Archive 1990–2003. 2017-05-06.

Notes and References

1. Book: Tom Strachan. Andrew Read. Human Molecular Genetics. 2 April 2010. Garland Science. 978-1-136-84407-2. 45.
2. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
3. http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.
4. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E. 6 . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . May 2006 . 16710414 . 10.1038/nature04727. 2006Natur.441..315G . free .
5. Pertea M, Salzberg SL. Between a chicken and a grape: estimating the number of human genes. . Genome Biol . 2010 . 11 . 5 . 206 . 20441615 . 10.1186/gb-2010-11-5-206 . 2898077 . free .
6. Web site: Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene . NCBI . CCDS Release 20 for Homo sapiens . 2016-09-08 . 2017-05-28.
7. Web site: Statistics & Downloads for chromosome 1 . HUGO Gene Nomenclature Committee . 2017-05-12 . 2017-05-19 . 2017-06-29 . https://web.archive.org/web/20170629120515/http://www.genenames.org/cgi-bin/statistics?c=1 . dead .
8. Web site: Chromosome 1: Chromosome summary - Homo sapiens . Ensembl Release 88 . 2017-03-29 . 2017-05-19.
9. Web site: Human chromosome 1: entries, gene names and cross-references to MIM . UniProt . 2018-02-28 . 2018-03-16.
10. Web site: Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
11. Web site: Search results - 1[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 . 2017-05-19 . 2017-05-20.
12. Web site: Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
13. Book: The Principles of Clinical Cytogenetics. Gersen. Steven L.. Keagle. Martha B.. 2013-03-26. Springer Science & Business Media. 9781441916884. 278. en.
14. "p": Short arm; "q": Long arm.
15. For cytogenetic banding nomenclature, see article locus.
16. These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
17. gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.