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.http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11. It represents about 8% of the total DNA in human cells.

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' genome annotation approach varies, their predictions of the number of genes in each chromosome are different (for technical details, see gene prediction). Compared to various other projects, the Consensus Coding Sequence Project (CCDS) takes an extremely conservative strategy; as such, CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date CCDS 1,961 — — 2016-09-08 HGNC 1,993 707 1,113 2017-05-12 Ensembl 2,044 1,924 1,223 2017-03-29 UniProt 2,064 — — 2018-02-28 NCBI 2,093 1,790 1,426 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 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 CIROZ: Ciliated left-right organizer ZP-N domains-containing protein DENND1B: 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. 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 Mitochondrial enoyl-CoA reductase protein-associated neurodegeneration (MEPAN syndrome) Muckle–Wells syndrome Nonsyndromic deafness Oligodendroglioma Parkinson disease Pheochromocytoma porphyria porphyria cutanea tarda popliteal pterygium syndrome prostate cancer Skraban–Deardorff syndrome Stickler syndrome TAR syndrome trimethylaminuria Usher syndrome Usher syndrome type II Van der Woude syndrome Variegate porphyria GLYT1 Encephalopathy

Cytogenetic band

+ G-bands of human chromosome 1 in resolution 850 bphs Chr. Arm"p": Short arm; "q": Long arm. BandFor cytogenetic banding nomenclature, see article locus. ISCNstartThese 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. ISCNstop Basepairstart Basepairstop Staingpos: 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. 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

References

Further reading

External links