J u m p t o c o n t e n t
M a i n m e n u
M a i n m e n u
N a v i g a t i o n
● M a i n p a g e ● C o n t e n t s ● C u r r e n t e v e n t s ● R a n d o m a r t i c l e ● A b o u t W i k i p e d i a ● C o n t a c t u s ● D o n a t e
C o n t r i b u t e
● H e l p ● L e a r n t o e d i t ● C o m m u n i t y p o r t a l ● R e c e n t c h a n g e s ● U p l o a d f i l e
S e a r c h
Search
A p p e a r a n c e
● C r e a t e a c c o u n t ● L o g i n
P e r s o n a l t o o l s
● C r e a t e a c c o u n t ● L o g i n
P a g e s f o r l o g g e d o u t e d i t o r s l e a r n m o r e ● C o n t r i b u t i o n s ● T a l k
( T o p )
1 R e p e a t s
2 D e t e c t i o n
3 S e e a l s o
4 R e f e r e n c e s
T o g g l e t h e t a b l e o f c o n t e n t s
L o w c o p y r e p e a t s
1 l a n g u a g e
● I t a l i a n o
E d i t l i n k s
● A r t i c l e ● T a l k
E n g l i s h
● R e a d ● E d i t ● V i e w h i s t o r y
T o o l s
T o o l s
A c t i o n s
● R e a d ● E d i t ● V i e w h i s t o r y
G e n e r a l
● W h a t l i n k s h e r e ● R e l a t e d c h a n g e s ● U p l o a d f i l e ● S p e c i a l p a g e s ● P e r m a n e n t l i n k ● P a g e i n f o r m a t i o n ● C i t e t h i s p a g e ● G e t s h o r t e n e d U R L ● D o w n l o a d Q R c o d e ● W i k i d a t a i t e m
P r i n t / e x p o r t
● D o w n l o a d a s P D F ● P r i n t a b l e v e r s i o n
A p p e a r a n c e
F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
Low copy repeats (LCRs ), also known as segmental duplications (SDs ), are DNA sequences present in multiple locations within a genome that share high levels of sequence identity.
Repeats
[ edit ]
The repeats, or duplications, are typically 10–300 kb sequence identity . Though rare in most mammals, LCRs comprise a large portion of the human genome owing to a significant expansion during primate evolution .[1] chromosomes Y and 22 [2]
Misalignment of LCRs during non-allelic homologous recombination (NAHR)[3] chromosomal microdeletion disorders as well as their reciprocal duplication partners.[4] non-homologous end joining (NHEJ) within this region are responsible for a wide range of disorders, including Charcot–Marie–Tooth syndrome type 1A ,[5] hereditary neuropathy with liability to pressure palsies ,[5] Smith–Magenis syndrome ,[6] Potocki–Lupski syndrome .[3]
Detection
[ edit ]
The two widely accepted methods for SD detection[7]
1. Whole-genome assembly comparison (WGAC), in which regions of homology within the assembly are identified.
2. Whole-genome shotgun sequence detection (WSSD), in which the duplication of regions is inferred by increased read coverage at the site of segmental duplication.
See also
[ edit ]
References
[ edit ]
^ a b Zhang, F; Potocki, L; Sampson, JB; Liu, P; Sanchez-Valle, A; Robbins-Furman, P; Navarro, AD; Wheeler, PG; Spence, JE; Brasington, CK; Withers, MA; Lupski, JR (12 March 2010). "Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS" . American Journal of Human Genetics . 86 3 ): 462–70. doi :10.1016/j.ajhg.2010.02.001 . PMC 2833368 PMID 20188345 .
^ Shaikh, TH; Kurahashi, H; Saitta, SC; O'Hare, AM; Hu, P; Roe, BA; Driscoll, DA; McDonald-McGinn, DM; Zackai, EH ; Budarf, ML; Emanuel, BS (1 March 2000). "Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis" . Human Molecular Genetics . 9 4 ): 489–501. doi :10.1093/hmg/9.4.489 PMID 10699172 .
^ a b Inoue, K; Dewar, K; Katsanis, N; Reiter, LT; Lander, ES; Devon, KL; Wyman, DW; Lupski, JR; Birren, B (June 2001). "The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes" . Genome Research . 11 6 ): 1018–33. doi :10.1101/gr.180401 . PMC 311111 PMID 11381029 .
^ Shaw, CJ; Withers, MA; Lupski, JR (July 2004). "Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates" . American Journal of Human Genetics . 75 1 ): 75–81. doi :10.1086/422016 . PMC 1182010 PMID 15148657 .
^ "Genome-wide detection of segmental duplications" .
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Low_copy_repeats&oldid=1168111862 " C a t e g o r i e s : ● M o l e c u l a r g e n e t i c s ● M u t a t i o n H i d d e n c a t e g o r i e s : ● A r t i c l e s n e e d i n g a d d i t i o n a l r e f e r e n c e s f r o m M a r c h 2 0 0 9 ● A l l a r t i c l e s n e e d i n g a d d i t i o n a l r e f e r e n c e s
● T h i s p a g e w a s l a s t e d i t e d o n 3 1 J u l y 2 0 2 3 , a t 2 1 : 5 1 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
